Skip to main content
Advertisement
Browse Subject Areas
?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

  • Loading metrics

The natural history of ataxia-telangiectasia (A-T): A systematic review

  • Emily Petley,

    Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Writing – original draft, Writing – review & editing

    Affiliation School of Medicine, University of Nottingham, Nottingham, United Kingdom

  • Alexander Yule,

    Roles Data curation, Formal analysis, Writing – review & editing

    Affiliation United Lincolnshire Hospitals NHS Trust, Lincoln, United Kingdom

  • Shaun Alexander,

    Roles Formal analysis, Writing – review & editing

    Affiliation School of Medicine, University of Nottingham, Nottingham, United Kingdom

  • Shalini Ojha ,

    Roles Conceptualization, Data curation, Formal analysis, Methodology, Supervision, Writing – review & editing

    shalini.ojha@nottingham.ac.uk

    Affiliations School of Medicine, University of Nottingham, Nottingham, United Kingdom, Children’s Hospital, University Hospitals of Derby and Burton, NHS Foundation Trust, Derby, United Kingdom

  • William P. Whitehouse

    Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Supervision, Writing – review & editing

    Affiliations School of Medicine, University of Nottingham, Nottingham, United Kingdom, Nottingham Children’s Hospital, Nottingham University Hospital NHS Trust, Nottingham, United Kingdom

Abstract

Background

Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition.

Objectives

Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature.

Search methods

107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library.

Selection criteria

All human studies that report any aspect of A-T.

Data collection and analysis

Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest.

Main results

1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months).

Conclusions

This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.

Introduction

Ataxia-telangiectasia (A-T) is an autosomal recessive, multi-system, progressive and life-shortening disease due to mutations in the ataxia-telangiectasia mutated (ATM) gene on chromosome 11q.26. The severest form, classical A-T, most often caused by a truncating mutation, results in either the absence of ATM protein or its ATM kinase activity. Variant form with reduced kinase activity presents with a milder phenotype and a slower disease progression [1].

A-T generally presents at 12–18 months with an unsteadiness of gait due to cerebellar ataxia. The ataxia gradually worsens and by the age of 10 years children are unable to walk. Other features such as dysarthria, oculomotor apraxia, dysphagia, choreoathetosis, dystonia, tremor, myoclonus, and peripheral neuropathy gradually develop and often worsen. The majority do not have severe cognitive impairment in childhood, although progressive cognitive impairment has been reported over time [2, 3]. Telangiectasia, the other eponymous feature, develops at 3–4 years of age, mostly in the bulbar conjunctiva but can sometimes be found in other organs such as the bladder. Immunological deficits make individuals with A-T more prone to recurrent infections, particularly sinopulmonary infections with progressive deterioration of lung function. Increased risk of malignancies such as leukaemia, lymphoma, and solid tumours further impact longevity with life expectancy generally limited to 20–30 years of age in people with classical A-T.

This wide spectrum of manifestations and multi-disciplinary interest in A-T means that numerous academic papers have been published on this condition. Whilst textbook and narrative reviews exist [4], no attempt has ever been made to collate the available information to give a complete, multi-faceted picture of this intriguing condition. The aim of this study is to perform a systematic review of all scientific literature reporting the natural history of A-T.

Aims and objectives

To describe the natural history of ataxia-telangiectasia (A-T) from birth to death as presented in existing scientific literature.

P–People of all ages, gender and ethnicity

I (E)–Diagnosis of ataxia-telangiectasia

C–People without ataxia-telangiectasia (where comparison group included)

O—Age of onset of cerebellar gait ataxia

Age of wheelchair use

Length of survival and cause of death

Presenting features of A-T

Understanding levels of AFP throughout life course of A-T

Methods

Protocol and registration

The review protocol can be accessed at Open Science Framework [5].

Eligibility criteria

All study types were included. There were no restrictions on length of follow-up, or type of publication.

Information sources

Six databases (PubMed; Ovid SP (MEDLINE) 1946- present; OVID EMBASE 1980 –present; Web of Science core collection; Elsevier Scopus (Categories; medicine, biochemistry, genetics and molecular biology, immunology and microbiology, neuroscience, pharmacology, toxicology and pharmaceutics, health professions); and the Cochrane Library) were searched from the date of the database creation to 19th August 2021.

Search

Initially A-T was identified by combining “Ataxia-telangiectasia”; “Ataxia-telangectasia”; “Ataxia telangiectasia” “Ataxia telangectasia”; “Louis-Bar”; and “Louis Bar” with the ‘OR’ function. A further 103 search terms were grouped into 17 searches and then combined with the above search using the ‘AND’ function. The full search strategy is given in S1 Protocol. In order to ensure that no relevant search terms were missed both UK and US English spellings were included, truncating was used where appropriate and common misspellings, for example ‘telangectasia’ were included.

Study selection

Included studies were selected as described in Table 1.

thumbnail
Table 1. Criteria for study selection for review of natural history of ataxia-telangiectasia.

https://doi.org/10.1371/journal.pone.0264177.t001

The review includes reports of cases of A-T at all ages (children and adults). Cases of classical and variant A-T were included. Cases were identified as variant A-T if reported as such or reported to have some ATM protein kinase activity. Other participants were presumed to have classical A-T.

Data collection process

All titles and articles were downloaded to a citation software (Endnote X9; Clarivate Analytics, Philadelphia) and duplicates removed automatically. The search was uploaded into a review software (Covidence systematic review software, Veritas Health Innovation, Melbourne, Australia. Available at www.covidence.org) which identified and removed some more duplicates. The remaining articles were sorted by title, year, journal, and authors, and remaining duplicates were manually removed.

One author (EP) screened all titles and abstracts and selected the full text articles. Full text articles were reviewed by EP who extracted data using a bespoke data extraction form (Microsoft Excel, 2016 Microsoft Corporation, United States). Any data extraction difficulties were discussed and resolved with two authors (SO and WW).

The extracted data included author, year of publication, country of origin, study design, study population, number of cases of A-T in study’ participant characteristics such as age, gender, clinical features related to the review’s primary and secondary outcomes.

No assumptions were made during data collection. Only statements about the presence or lack of presence of an outcome were included in the analysis.

Where reported, age of onset/diagnosis for each outcome was extracted. Where symptoms were reported as having occurred ‘by’ an age and the age of onset was not determinable, it was not included.

Outcomes

Primary outcomes

  • Age of onset of cerebellar gait ataxia
  • Age of wheelchair use
  • Length of survival and cause of death
  • Presenting features of A-T
  • Understanding levels of AFP throughout life course of A-T

Secondary outcomes

  • Missed and incomplete diagnoses
  • Reasons for diagnostic delays
  • Age of onset of other neurological signs and symptoms, for example movement disorders, dysarthria, developmental delay, imaging findings
  • Other diagnosis, types, age of onset and treatments (where available)
    • Common recurrent infections
    • Respiratory conditions including bronchiectasis, interstitial lung disease
    • Malignancies
    • Diabetes
    • Granulomatous disease
    • Skin conditions
    • Use of gastrostomy (reasons and age of insertion)
    • Laboratory findings including vitamin D, dyslipidaemia
  • Any other findings

Assessment of risk of bias

Quality assessment of cohort and case-control studies was completed by EP and AY using the Newcastle-Ottawa tool [6], as recommended by the Cochrane Collaboration [7]. The ratings for cohort studies were converted to ARHQ standards [8].

Identification of multiple reports of same cases

In addition to removing duplicates, we identified and combined multiple reports of the same cases, where identifiable and possible. Initial full text review revealed that some cases were included in several reports. We identified such duplications by pattern recognition and matching them on characteristics such as age and gender of the case, presence of unusual diagnoses or other common features, authors, and site of study. The information from such reports were then combined such that in the analyses they represented one patient. However, we acknowledge that not all multiple reports of the same individual can be identified in this manner. Where we were unable to reasonably ascertain that the reports were of the same case, we included them as individual cases.

Statistical analyses

The extracted data were analysed using calculations of total number of a sign/symptom/diagnosis, age range, and median age of onset or diagnosis (dependent on variable). Findings are reported descriptively and where possible data are collated to report median (range, interquartile range) of each presentation or feature of the condition. Statistical analysis was performed in Microsoft Excel 2016 (Microsoft, Redmond).

Dealing with missing data

This review is limited to the data that were available in the included studies. Due to the large number of studies and large volume of missing data, it was not feasible to contact the authors to attempt full data collection on each included case.

Subgroup analysis

A sub-group analysis was performed with the same method as above of cases with presumed or confirmed variant A-T and those with presumed or confirmed classical A-T.

The PRISMA check list was used in compiling this report, S1 Checklist.

Results

Results of the search

The search yielded 209086 titles and abstracts (Fig 1). After removal of 193404 duplicates and exclusion of 14399 articles by review of title and abstract, 1283 full text articles were reviewed.

Included studies

We included 1131 studies of eight different types: 434 case reports, 378 case series, 100 cross-sectional, 70 case-control, 57 cohort, 60 prevalence, 29 interventional, and 3 qualitative studies. Most studies included fewer than 10 cases although there were 33 studies with more than 100 cases each (Fig 2). The median (IQR, range) number of participants per study was 2 (1 to 12, 1 to 585). Six studies [914] did not report the number of participants.

A total of 18247 participants were included in these studies. Median age at inclusion was (IQR) (n = 1648) 144.0 months (84.0–240.0). The youngest case was of a 6 day old infant diagnosed by newborn screening programme and the oldest was 78 years of age. Sex was reported in 7840 cases of which 3719 (47.4%) were female. There were 457 (2.5%) confirmed/presumed variant cases included in 60 reports [1, 1573].

Studies were widely reported across North America, Europe, and parts of Asia. There were fewer reports from Africa, parts of South America and the Middle East.

Family history

Of the 18246 cases, family history of A-T was reported in 1274 cases (Table 2) and 142 cases (53 studies) had 199 illnesses or symptoms other than A-T in a relative (Fig 3A). 1279 cases (109 studies [15, 53, 65, 71, 72, 78, 87, 88, 95, 99101, 109, 110, 115, 118221]) were the children of consanguineous relationships, and 186 cases (86 studies [23, 33, 41, 50, 54, 62, 63, 65, 71, 74, 84, 88, 95, 111, 116, 142, 146, 151153, 188, 208210, 212, 214, 216, 218, 219, 221277]) were reported as being born of non-consanguineous relationships.

thumbnail
Fig 3. Family history of other illness, and presenting symptoms and signs.

https://doi.org/10.1371/journal.pone.0264177.g003

thumbnail
Table 2. Family history of ataxia-telangiectasia (A-T) in reported case of A-T.

https://doi.org/10.1371/journal.pone.0264177.t002

Birth and early childhood

Gestational age at birth was reported in 320 cases (68 studies); 289 cases at term gestation, 31 cases <37 weeks gestation. The lowest gestation was reported as “< 30 weeks”. Birth weight was reported in 41 cases (34 studies [43, 59, 63, 84, 108, 110, 111, 139, 178, 206, 212, 231, 242, 252, 254, 263, 268, 272, 276, 298, 305, 325, 372, 380, 384, 391, 399406]) with median (range) of 2.9.5 (1.32 to 4.08) kg.

Antenatal problems were reported in 20 cases (12 studies [84, 106, 108, 129, 143, 231, 236, 263, 372, 384, 404, 407]) while 25 postnatal concerns were reported in 22 cases (12 studies [84, 214]).

Details are provided in S3-S5 Tables in S1 File.

Diagnosis

329 cases reported an age of diagnosis as shown in Table 3.

thumbnail
Table 3. Age of diagnosis of ataxia-telangiectasia as reported in literature.

https://doi.org/10.1371/journal.pone.0264177.t003

17 cases (10 studies [106, 119, 124, 133, 204, 247, 261, 310, 359, 404]) reported a delay in diagnosis. Case reports were excluded from this analysis. Most cases were reported as being diagnosed at the first presentation. Most reported cases were diagnosed without any delay, however a minority were diagnosed late: the median delay in diagnosis (n = 17) was 0.0 i.e., diagnosed at first presentation but there was wide variation with a range of 0.0–312.0 (IQR, 0.0–43.0) months.

Missed, or incorrect diagnoses reported are shown in S1 Fig. Cerebral palsy was the most common incorrect diagnosis. 7 of the 14 cases reported with a specific type of cerebral palsy, had the ataxic form.

Clinical features

The presenting sign(s)/symptom(s) were reported in 1314 cases. These included 2134 signs/symptoms (Fig 3B and 3C).

Neurological

Ataxia and mobility.

Cerebellar gait ataxia was reported in 3223 cases, truncal ataxia in 357 cases and limb ataxia in 163 cases (Fig 4A).

thumbnail
Fig 4. Ataxia, mobility, eye movements, oculomotor apraxia, and other neurological manifestations.

https://doi.org/10.1371/journal.pone.0264177.g004

3 cases (1 study [36]) reported ataxia at 12 months that no longer had ataxia at 48 months, 72 months, and 72 months respectively.

Fig 4B shows all reported age data for cerebellar gait ataxia, truncal ataxia, limb ataxia and mobility.

Eye signs.

Data was reported within the included studies on oculomotor apraxia, strabismus, pursuit, nystagmus, and saccades (Fig 4C and 4D).

17 further cases (1 study [537]) may also have had strabismus (reported as lateral gaze deviation or squint).

Other neurological features.

Within the included articles, data were reported on sensory examination, peripheral neuropathy, seizures, drooling, muscle atrophy, and contractures (Fig 4E and 4F).

Tone, weakness and reflexes.

Included studies reported data on reflexes, muscle tone, and muscle weakness (Fig 5A).

thumbnail
Fig 5. Tone and weakness, movement disorders, cerebellar signs, immunoglobulin levels, immunoglobulin replacement, and prophylactic antibiotics.

https://doi.org/10.1371/journal.pone.0264177.g005

Several cases had progression of the reflexes from normal to hyporeflexia over time.

Dysarthria.

1219 cases (177 studies [18, 28, 31, 33, 36, 38, 41, 42, 4749, 52, 57, 59, 62, 63, 65, 66, 72, 73, 75, 76, 80, 84, 87, 95, 99, 100, 103, 106, 108, 109, 111, 116, 118120, 122, 123, 126, 129, 131, 138141, 143, 147, 159, 165, 166, 174176, 179, 181, 190, 191, 202, 206, 208, 211, 213, 216, 217, 219226, 228231, 233, 234, 236238, 240, 242, 245, 247, 248, 251, 254, 255, 260, 265, 268, 271, 276, 278, 285, 287, 288, 290, 298, 303, 305, 310, 319, 323, 325, 326, 331, 335, 339, 342, 345, 347, 348, 363, 366, 368, 369, 372, 379, 380, 384, 388390, 392, 394396, 399, 401, 404, 405, 407, 409411, 414, 415, 431, 435, 439, 440, 448, 449, 469, 472, 476, 479, 490, 494, 495, 501, 518, 519, 524, 528, 529, 534, 537, 538, 540, 541, 544, 555, 563, 574, 585, 586, 590, 604, 607, 609, 620, 625, 629, 633, 651]) reported dysarthria, 39 presumed/confirmed variant cases and 1180 in presumed/confirmed classical cases. Overall, the median age of onset (n = 58) was 60 months (range 12.0–528.0 months, IQR 36.0–96.0 months).

Movement disorders.

Included studies reported a wide range of movement disorders (Fig 5B and 5C).

Data were reported on sites of dystonia; 6 cases, upper limb; 7 cases, cervical; 2 cases retrocollis; 2 cases laryngeal; 2 cases truncal; 5 cases, cervical, trunk and limb dystonia; 1 case, leg; 1 case, head; 1 case, oromandibular; and 1 case, finger dystonia.

Cerebellar signs.

107 included studies reported cerebellar signs (Fig 5D).

Neuroimaging findings

546 cases (156 studies) reported abnormal neuroimaging (MRI or CT). Cerebellar atrophy/hypoplasia was the most common neuroimaging finding (Fig 8C).

All cerebellar atrophy was reported on MRI, except for 46 cases; 21 cases (8 studies [119, 123, 139, 145, 159, 180, 299, 392]) reported it after CT scan, 12 cases (7 studies [108, 231, 276, 345, 347, 358, 464]) reported it at post-mortem, 11 cases (5 studies [191, 225, 355, 378, 467]) reported cerebellar atrophy but did not report the imaging modality, and 2 cases [237, 298] reported it on pneumoencephalogram.

Electromyography (EMG).

62 cases (27 studies [33, 38, 41, 49, 53, 55, 72, 118, 120, 123, 139, 143, 186, 208, 212, 213, 338, 358, 366, 368, 372, 388, 392, 519, 528, 683, 684]) reported an abnormal EMG. The youngest age at which an abnormal EMG was reported was 4 years 0 months. The oldest age a normal EMG reported was 18 years 0 months. 16 cases were reported to have both abnormal motor and sensory nerve conduction. 1 case was reported to have only abnormal motor nerve conduction, and 10 cases were reported to only have abnormal sensory nerve conduction.

Immunology

Immunoglobulin levels and replacement.

Reported immunoglobulin levels are shown in (Fig 5E).

819 cases (147 studies) reported the use of immunoglobulin replacement therapy (Figs 5F and 6A). 3 cases (1 study [24]) were received immunoglobulin replacement temporarily. 2 variant cases were reported to receive immunoglobulin replacement [66].

thumbnail
Fig 6. Age at start of prophylactic antibiotic and immunoglobulin replacement, non-infectious respiratory manifestations, and malignancy.

https://doi.org/10.1371/journal.pone.0264177.g006

Prophylactic antibiotics.

332 cases (56 studies) reported the start of use of prophylactic antibiotics (Figs 7F and 8A) including one [243] who had prophylactic antibiotics post-splenectomy.

thumbnail
Fig 7. Alpha fetoprotein (AFP), endocrine, bulbar telangiectasia, skin, and orthopaedic manifestations.

https://doi.org/10.1371/journal.pone.0264177.g007

thumbnail
Fig 8. Gastrointestinal, neuroimaging, cognitive and educational manifestations, and cause of death.

https://doi.org/10.1371/journal.pone.0264177.g008

Recurrent infections

1326 cases reported recurrent infections (Fig 6B).

Further breakdown of recurrent infections is available in S2 Fig.

Non-infectious respiratory manifestations

Studies included in the review reported non-infectious manifestations including bronchiectasis, chronic lung disease, pneumothorax, asthma, allergic rhinitis, bronchitis, pneumonitis, and obstructive sleep apnoea (Fig 6C and 6D).

259 cases reported bronchiectasis. The youngest age at which bronchiectasis was diagnosed was < 3 years [228]. The oldest child reported with no bronchiectasis was 108.0 months (n = 3) [43] and was in the presumed/confirmed variant group.

50 cases (13 studies) reported pneumothorax. 2 cases (2 studies [91, 240]) reported bilateral pneumothoraces. A further 5 cases (1 study [175]) reported that they had 2 pneumothoraces, but it could not be discerned if it was bilateral or two separate events. 2 cases (1 study [712]) were after gastrostomy tube insertion.

Malignancy

1889 malignancies were reported in 1706 cases (365 studies). Only malignant tumours were included (Fig 6E and 6F).

The median age of diagnosis of NHL (n = 85) reported was 116.4 months (range 6–427.2 months, IQR 72.0–168.0 months). The median age of diagnosis of Hodgkin’s disease (n = 61) reported was 108.0 months (range 44.0–684.0 months, IQR 96.0–166.0 months). The median age of diagnosis of leukaemia (n = 99) reported was 132.0 months (range 1.0–612.0 months, IQR 54.0–204.0 months).

Further breakdown of the results is available in the supplementary files, including the presenting symptoms of Hodgkin’s lymphoma, non-Hodgkin’s lymphoma and leukaemia (S3S5 Figs).

Alpha-feto protein (AFP) levels

1685 cases (292 studies [21, 22, 24, 27, 28, 30, 33, 3538, 41, 42, 4750, 52, 54, 74, 78, 83, 88, 89, 91, 99101, 103, 105107, 109, 115, 119124, 126, 128, 129, 131135, 138, 140, 143, 147, 148, 150, 160, 161, 165, 166, 168, 169, 172, 174, 177, 180, 183, 184, 191193, 195197, 199, 214, 223, 225, 227229, 233, 236, 238, 239, 241, 244248, 250252, 256259, 261, 263270, 272, 273, 287, 294, 299, 300, 303, 304, 307, 312, 316, 318, 326, 338, 346, 354, 355, 359, 378, 381383, 385, 388, 390, 391, 395, 404, 405, 414419, 422, 423, 428, 429, 431, 433435, 438440, 443445, 448, 450, 451, 455, 458, 460, 461, 464, 468470, 476, 478, 479, 481483, 486, 492, 493, 495, 497, 500, 509, 510, 515, 516, 520, 522, 525, 528, 530, 531, 533, 534, 536, 539541, 545, 550, 556, 558, 564, 567, 570, 575, 576, 580, 582, 583, 589, 591, 597, 599, 601, 604, 609611, 619, 620, 625, 649, 661, 675, 678, 689, 692, 693, 699, 715, 804, 806, 819, 899907] [43, 53, 59, 6163, 6567, 72, 76, 77, 84, 92, 9496, 102, 194, 203, 204, 207, 208, 211, 213, 214, 216219, 221, 233, 362, 363, 368, 369, 375, 396, 398, 409, 411, 424, 481, 501, 504, 521, 532, 616, 628, 631, 641, 642, 768, 893]) reported raised levels of AFP. Reported individual AFP values and relationship between age and AFP level is reported in Fig 7A and 7B.

Endocrine

Reported endocrine manifestations of A-T including diabetes, hypothyroidism and biochemical lipid disorders are described in Fig 7C and 7D.

In addition, 5 cases (1 study [75]) of rickets were reported.

Dermatology

Bulbar telangiectasia.

2642 cases (346 studies [1719, 23, 24, 29, 3538, 42, 47, 49, 75, 80, 87, 91, 99101, 103, 104, 106113, 115, 116, 118126, 128, 129, 131, 132, 134, 138, 139, 141, 143, 145, 147, 149, 150, 152, 155, 158,166, 168, 172, 174176, 180, 181, 222234, 236240, 242, 244, 247, 248, 250, 251, 254256, 258263, 265267, 278, 281285, 287290, 294, 298300, 302, 304, 305, 307, 309, 310, 316, 317, 319, 323326, 331, 332, 335, 338340, 369, 372, 374376, 382385, 388392, 401, 403405, 407, 410412, 414418, 423429, 431433, 435, 439, 440, 444, 445, 447, 448, 450, 451, 455457, 467470, 472, 473, 476, 477, 513, 518, 520, 523525, 527, 528, 530, 534536, 543, 546, 547, 555, 556, 562, 563, 566, 569, 571576, 580, 582, 583, 588, 589, 591595, 598604, 608610, 651, 770, 841, 918920] [47, 52, 53, 57, 58, 63, 6668, 72, 76, 77, 79, 83, 84, 96, 183, 186, 189194, 196, 197, 199, 202, 204206, 211213, 215, 217221, 231, 269276, 345347, 349, 350, 353355, 358, 361, 365, 366, 368, 378, 393397, 406, 483, 485, 488, 489, 492495, 497499, 501504, 521, 538, 540, 554, 611, 616, 618, 621, 626, 628, 630, 631, 633, 640, 646, 658, 718, 921925]; reported bulbar of conjunctival telangiectasia. The age of presentation of bulbar or conjunctival telangiectasia is shown on Fig 7E.

294 cases (80 studies [18, 23, 24, 42, 5254, 61, 66, 75, 76, 80, 84, 88, 91, 101, 104, 108, 111, 166, 175, 179, 190, 194, 212, 217, 221, 224, 225, 228, 230, 231, 236, 239, 242, 244, 248, 254, 259, 270, 271, 274, 289, 290, 315, 331, 347, 366, 372, 384, 394, 401, 403, 406, 414, 426, 428, 435, 448, 449, 457, 468, 483, 489, 492, 493, 498, 502, 518, 535, 547, 556, 573, 574, 592, 640, 651, 718, 841, 895]) reported other telangiectasia. A breakdown of these results is shown in S6 Fig. Other reported skin manifestations are shown in Fig 7F.

Orthopaedics

Scoliosis, pes cavus abnormalities, equinus foot abnormalities and tight Achilles tendon(s) were reported as shown in Fig 7G.

Four cases reported age of diagnosis of scoliosis (median 131.4 months, range 102.0 months– 172.8 months). An additional 62 cases reported a mean age of diagnosis resulting in overall mean age of diagnosis (n = 66) of 153.0 months. One study [372] reported surgery for left thoracolumbar scoliosis at 14 years.

Gastrointestinal

A variety of gastrointestinal manifestations and interventions were reported (Fig 8A and 8B).

The reported gastrostomy insertion indications are described in S7 Fig.

66 cases (14 studies [35, 226, 233, 345, 431, 448, 449, 463, 659, 743, 768, 818, 909, 916]) reported a diagnosis of fatty liver or hepatic steatosis and age of diagnosis was reported in 2 cases (252.0 months and 336.0 months). Seven cases were in the presumed/confirmed variant group and 59 cases were in the presumed/confirmed classical group.

Other medical problems

The word cloud in S8 Fig shows other medical conditions that were reported in the literature that have not been reported elsewhere in this review.

Reproductive health

7 studies [35, 52, 106, 119, 356, 396, 644] reported 12 cases of pregnancy (8 healthy infants in 4 cases and 8 further cases who were pregnant at least once). 6 presumed/confirmed classical cases and 6 presumed/confirmed variant cases. One study [644] reported one male who had 2 children. There were 2 case reports of primary [251, 636] and 2 cases of secondary [432, 636] amenorrhoea. 2 studies [111, 287] reported 7 cases of delayed menarche. 1 study [52] reported delayed sexual characteristics in 4 of 14 cases. One study [636] reported one case of no puberty by 19 years.

Social outcomes

Included studies reported limited data on cognitive function, employment and education. The data that were reported are shown in Fig 8D.

As expected, there were several reports of delayed neurological development in early life (S9 Fig).

Death

1705 deaths were reported. 294 cases reported age of death (Table 4). 752 causes of death were reported in 687 cases. 1021 cases did not report a cause of death, or it was unknown (Fig 8E and 8F with further details in S6 Table in S1 File).

Quality assessment of included studies

72 case control studies were quality assessed. The total number of stars (*) available was 10 with 10 stars representing the best quality. There were one, 10*; 6, 9*; 14, 8*; 17, 7*; 14, 6*; 11, 5*; 7, 4*; and one, 3* studies (see details in S7 Table in S1 File).

58 cohort studies were assessed. Using full criteria 56 studies were rated poor and 2 rated as fair when converted to AHRQ standards. Large numbers of downgrading were due to the lack of a control group. When this criterion was removed, of the 52 studies without a comparable group, 7 studies were rated poor, 29 fair, and 16 good. Details are given in S8 Table in S1 File. The 6 studies that had a comparable cohort were rated as 1 poor (abstract only), 1 fair (full text), and 4 good (all full text).

Discussion

This review puts together a cohesive narrative of evidence based-information about A-T that will allow healthcare professionals and researchers to provide better information to families, and design and deliver research to improve care.

Summary of evidence

We found a large volume of literature on A-T with over 1000 studies included in the analysis. Despite excluding duplicate cases, we found reports of 18247 cases. Most were classical A-T but 2.5% were reported as variants. The worldwide prevalence of variant A-T is not determined as yet.

This review contains cases of A-T from across the world with a large variety of phenotypic features in addition to the expected features including cerebellar gait ataxia and conjunctival/bulbar telangiectasia. There was a wide range in the age of cases reported.

Although cases were reported from 74 countries, nearly a quarter of the cases were from the USA and another quarter from just four other countries (the UK, Italy, Germany, and Turkey). The data presented may therefore be skewed towards presentations as seen in certain parts of the world. There are limited or no cases reported from several regions including Sub-Saharan Africa, parts of South America, and the Middle East. It is unlikely that A-T does not occur in these regions. This distribution may represent the global inequity in the care of children with A-T and a reporting/publication bias.

Main findings

Although, as expected, most cases reported cerebellar ataxia, we found reports of cases with no cerebellar ataxia including 47 reports of classical A-T. These may be incomplete reports, inaccurate diagnoses, or could have been rarer presentations where other features such as leukaemia present before the ataxia manifests. Such reports, especially with a genetic diagnosis, are also more likely with screening pre-symptomatic young children such as when there is a family history.

In keeping with the existing view, we found that the median reported age of wheelchair requirement is 10 years. This requirement comes considerably later, by 26–27 years, in those with variant A-T. As expected, cerebellar gait ataxia was the most reported first presenting symptom however over a quarter did not have ataxia as their first clinical presentation. Dysarthria was reported as the first presentation in 9% of cases. Fewer reports of cases with typical presentations may be less likely to be published due to a bias towards reporting and publication of unusual presentations.

Although we found only a few cases, diagnosis in the newborn period due to screening of those with immunological abnormalities or family history is likely to become more common particularly following the introduction of routine screening for severe combined immunodeficiency disease in several countries including the UK. Such an early diagnosis may confer some benefit such as earlier provision of support for neurological signs and symptoms, treatment for related conditions such as bronchiectasis, and early diagnosis and management of malignancies.

As expected, median age of death was lower in classical cases (14 years 0 months) compared to variant cases (48 years 0 months), likely due to no ATM protein kinase activity resulting in a more severe phenotype in classical cases.

Raised AFP is often used as part of the diagnostic process. Although AFP results were reported in 158 studies, longitudinal results of AFP were very rarely presented. It was difficult to extract AFP data in relation to the time of diagnosis of the various clinical manifestations of A-T. Lower AFP at an older age was seen in those with variant A-T. A longitudinal study of AFP would help to show the pattern of AFP levels throughout the course of the disease and possibly lead to earlier diagnosis of malignancy, or clinical manifestations of A-T, enabling earlier treatments or supportive care.

Secondary outcomes

As A-T is a rare disease, it is not unusual for the condition to be misdiagnosed. We found that, most often, A-T was mis-labelled as cerebral palsy (CP). Since delay in developmental milestones manifest first, the infant is labelled with CP before the recognition of ataxia. In addition, due to its rarity, and perhaps due to limited knowledge of the condition among physicians, A-T may not be considered initially. We found that classical cases were diagnosed at a median age of 6 years and variant cases at 29 years and 6 months. Variant A-T is often diagnosed much later in life when typical symptoms manifest, or a diagnosis is initially missed, or not considered, due to the milder phenotype.

Dystonia was a common feature in both variant and classical cases. Although data were limited to 43 cases, dystonia appears to present earlier in variant compared to classical cases. Dysarthria however was reported at a much older age in the variant group, compared to the classical group similar to oculomotor apraxia.

In comparison to the classical group, very few cases of recurrent infections were reported in variant cases, suggesting immunological impairment is not a common part of the variant phenotype. Despite interstitial lung disease being a recognised complication of A-T, only three cases reported the use of home oxygen. Bronchiectasis was reported more commonly than interstitial lung disease.

Lymphoma and leukaemia were the most common malignancies reported. Very few cases of lymphoma were reported in the variant group where we found reports of a wide variety of solid tumours. We are not aware of a routine screening protocol for malignancy in people with A-T in the UK, despite almost 10% of cases in this review reporting a history of at least 1 malignancy and there are likely to be many more that were not reported. However, some countries do have screening programmes for all people with A-T, which we think would be very helpful, by facilitating early diagnosis of malignancies.

Similarly, although difficulties with nutrition and swallowing are well known in A-T, we found very few cases, mostly of classical A-T, that reported gastrostomy insertion. Data were not sufficient to determine if gastrostomy insertion improved outcomes.

We found some cases of diabetes, youngest at the age of 10 years. Data were limited and we were unable to determine the presence of risk factor and types of treatment needed. There is growing evidence [961] for the development of hepatic steatosis/fatty liver and its association with A-T and we found 66 cases that reported hepatic steatosis and several that reported dyslipidaemia.

As expected, cerebellar atrophy was the most common neuropathological finding reported. Several studies reported mild, moderate or severe cerebellar atrophy, but none presented a standardised classification thus making it difficult to combine the reports. Limited data on EMG/nerve conduction studies were reported in the literature. Some reported peripheral neuropathy. Not much information was available about axonal neuropathy, particularly in children, however EMG is an uncomfortable procedure that is often not tolerated. Exploring this gap in our understanding may enable clinicians to diagnose unsafe swallowing or scoliosis earlier. A longitudinal EMG/nerve conduction study is needed.

Vitamin D deficiency is a concern in A-T exacerbated by advice to avoid sun exposure to reduce the risk of skin cancers. We found 152 cases that reported vitamin D levels and over a third were normal. This demonstrates that it is possible to maintain adequate vitamin D levels with supplementation and appropriate life-style advice.

We found reports of granulomatous disease only among classical cases suggesting that granulomas are linked to a lack of protein kinase. Similarly, scoliosis was only reported in classical cases suggesting that this is a feature of the more severe clinical phenotype.

Few studies reported IQ or cognitive function using a standardised and validated tool. We were unable to determine if A-T is associated with global impairment or if only specific domains are affected. Some cognitive tests are dependent on speech, motor movements and eye movements, and therefore it is difficult to test IQ in people with A-T demonstrating yet another gap in our knowledge of A-T.

Strengths and limitations

Despite our comprehensive literature search and review, we did not find population-based studies and were unable to determine the prevalence of A-T. We have included a wide variety of studies to ensure a complete representation of the available literature. However, this made data extraction and synthesis a challenge. There is no standardised reporting format for A-T. Most case reports concentrate on positive findings and very few report the absence of signs or symptoms. Clinical features were, often, arbitrarily classified such as mild/moderate/severe and in the absence of a standardised classification, such reports could not be compared with each other.

We expect that, similar to other rare diseases, reports of A-T are subject to a reporting and publication bias. It is likely that rarer or unusual presentations are more likely to be published and the typical presentation may be under-represented in literature and, therefore, in this review. We also found several publications from same authors or the same centres. It is possible that some such reports will include the same cases. Duplicate reporting is also more likely in a condition such as A-T due to the multi-system involvement. The same case may be reported several times with publications focusing on a different aspect of the case each time. Where possible, we excluded identifiable duplicates, but it is likely that some may remain unnoticed. Due to the large volume of literature, it was unfeasible to contact authors and request further information on this or other matters. We were unable to access a few full text articles and were limited to English language reports.

We followed a standardised search strategy, data extraction, assessed quality of publications where possible, and combined the available data. Data were only extracted pre-intervention in interventional studies as the intervention could change the natural history of the disease. Where reports only presented non-specific information, data was excluded to ensure reliability. With attention to methodological rigour, we ensured that despite the limitations, this review is a concise yet exhaustive overview of A-T literature.

Conclusion

A-T is a widely reported condition. We found that classical and variant cases are reported in many forms but there is a lack of standardised reporting and population-based studies. Well designed population-based longitudinal cohort studies are required to find the true prevalence and natural history of the condition. Development of core outcomes sets will further enable comparison between populations and cohorts if similar outcomes are reported in a standardised manner in all studies. Such epidemiological research will provide the high-quality evidence needed to improve care of those with A-T and their families and work towards trying to find a cure for this life-shortening disease.

Supporting information

S1 File.

Table S1 Outcome definitions and, Table S2 Study type definitions and, Table S3 Reported antenatal problems and, Table S4 Reported birth weight and gestation and, Table S5 Reported postnatal problems and, Table S6 Detailed cause of death and, Table S7 Quality assessment Case-control studies and, Table S8 Quality assessment Cohort studies.

https://doi.org/10.1371/journal.pone.0264177.s003

(PDF)

S2 File. Fig and supplemental fig references.

https://doi.org/10.1371/journal.pone.0264177.s004

(PDF)

S3 File. FINAL resubmission full dataset.

https://doi.org/10.1371/journal.pone.0264177.s005

(XLSX)

S1 Fig. Incorrect, incomplete, and missed diagnoses.

https://doi.org/10.1371/journal.pone.0264177.s006

(TIF)

S2 Fig. Breakdown of recurrent infections.

https://doi.org/10.1371/journal.pone.0264177.s007

(TIF)

S3 Fig. Presenting symptoms of Hodgkin’s Lymphoma.

https://doi.org/10.1371/journal.pone.0264177.s008

(TIF)

S4 Fig. Presenting symptoms of non-Hodgkin’s Lymphoma.

https://doi.org/10.1371/journal.pone.0264177.s009

(TIF)

S5 Fig. Presenting symptoms of leukaemia.

https://doi.org/10.1371/journal.pone.0264177.s010

(TIF)

S8 Fig. Other medical problems word cloud.

https://doi.org/10.1371/journal.pone.0264177.s013

(TIF)

S9 Fig. Delayed neurological development in early life.

https://doi.org/10.1371/journal.pone.0264177.s014

(TIF)

References

  1. 1. Jackson T.J., Chow G., Suri M., Byrd P., Taylor M. R., Whitehouse W. P., Longitudinal analysis of the neurological features of ataxia-telangiectasia. Developmental Medicine & Child Neurology, 2016. 58(7): p. 690–7. pmid:26896183
  2. 2. Vinck A., Verhagen M. M., Gerven Mv, de Groot I. J., Weemaes C. M., Maassen B. A, et al., Cognitive and speech-language performance in children with ataxia telangiectasia. Developmental neurorehabilitation, 2011. 14(5): p. 315–22. pmid:21870956
  3. 3. Hoche F., et al., The Cerebellar Cognitive Affective Syndrome in Ataxia-Telangiectasia. Cerebellum, 2019. 18(2): p. 225–244. pmid:30338439
  4. 4. Rothblum-Oviatt C., et al., Ataxia telangiectasia: a review. Orphanet Journal Of Rare Diseases, 2016. 11(1): p. 159. pmid:27884168
  5. 5. Petley E. Scoping Review of the Natural History of Ataxia-Telangiectasia [Internet]. 2021.
  6. 6. Wells GA, et al. The Newcastle-Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses. [cited 2021 29 October].
  7. 7. Higgins JPT and Green S, Cochrane Handbook for Systematic Reviews of Interventions. 2011.
  8. 8. M, V., et al., Assessing the Risk of Bias of Individual Studies in Systematic Reviews of Health Care Interventions. Agency for Healthcare Research and Quality Methods Guide for Comparative Effectiveness Reviews. 2012. pmid:22479713
  9. 9. Kobayashi N., Yata J., Primary Immunodeficiency Diseases And Malignancy In Japan Hiroshi Hayakawa. The Japanese Journal of Pharmacology, 1989. 49(1): p. 135–138. pmid:2724675
  10. 10. Andrade I.G.A., Costa-Carvalho B. T., Sarni R. O. S., Da Silva R., Hix S., Dyslipidemia and reduced antioxidant vitamins in ataxia telangiectasia patients. Journal of Clinical Immunology, 2014. Conference: p. 2014 Clinical Immunology Society, CIS Annual Meeting: Primary Immune Deficiency Diseases North American Conference. Baltimore, MD United States. Conference Publication: (var.pagings). 34 (3) (pp 371).
  11. 11. Iourov I., et al., Mosaic expression of chromosome instability in the ataxia telangiectasia brain. Chromosome Research, 2009. 17: p. 177–178.
  12. 12. Erichsen A.K., Koht J., Stray-Pedersen A., Abdelnoor M., Tallaksen C. M., Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain, 2009. 132(Pt 6): p. 1577–88. pmid:19339254
  13. 13. Bhatt J.M., Bush A., Microbiological surveillance in lung disease in ataxia telangiectasia. European Respiratory Journal, 2014. 43(6): p. 1797–801. pmid:24525444
  14. 14. Lopez-Rodriguez E., Fernandez-Alvarez H., Ordaz-Favila J. C., Ophthalmologic features of the phakomatoses in children. Revista Mexicana de Oftalmologia, 1998. 72(6): p. 302–306.
  15. 15. Bielorai B., Fisher T., Waldman D., Lerenthal Y., Nissenkorn A., Tohami T., et al., Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant. Pediatric Hematology & Oncology, 2013. 30(6): p. 574–82. pmid:23509889
  16. 16. Pajor H.A., Naji Z. A., Lawler M. H., Adult onset ataxia-telangiectasia with left lower leg malignant sarcoma requiring left knee disarticulation amputation: A case report. PM and R, 2015. Conference: p. 2015 Annual Assembly of the American Academy of Physical Medicine and Rehabilitation. Boston, MA United States. Conference Publication: (var.pagings). 7 (9 SUPPL. 1) (pp S162).
  17. 17. Sutton I.J., Last J. I., Ritchie S. J., Harrington H. J., Byrd P. J., Taylor A. M., Adult-onset ataxia telangiectasia due to ATM 5762ins137 mutation homozygosity. Annals of Neurology, 2004. 55(6): p. 891–5. pmid:15174027
  18. 18. Krenn M., et al., Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing. Neurol Genet, 2019. 5(4): p. e346. pmid:31403082
  19. 19. Driessen G.J., Ijspeert H., Weemaes C. M., Haraldsson A., Trip M., Warris A., et al., Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. Journal of Allergy & Clinical Immunology, 2013. 131(5): p. 1367–75.e9. pmid:26435720
  20. 20. Sanal O., Ersoy F., Tezcan I., Metin A., Yel L., Berkel A. I., et al., Antibody production against pneumococcal polysaccharide in patients with ataxia-telangiectasia. Molecular Immunology, 1998. 35(11–12): p. 756–756.
  21. 21. Liebrich W., Esser M., Emmanuel S, Ataxia telangiectasia. Current Allergy and Clinical Immunology, 2018. 31(4).
  22. 22. Chaila E., Taylor M., Murphy R., Enright H., Ataxia telangiectasia presenting with a normal level of ATM protein, multiple myeloma and prolonged survival. Journal of Neurology, 2005. 252: p. 102–103.
  23. 23. Stankler L., Bennett F. M., Ataxia telangiectasia. Case report of a benign variant with telangiectasia recurrent infection and low IgA. British Journal of Dermatology, 1973. 88(2): p. 187–9. pmid:4706462
  24. 24. van Os N.J.H., Jansen A. F. M., van Deuren M., Haraldsson A., van Driel N. T. M., Etzioni A., et al., Ataxia-telangiectasia: Immunodeficiency and survival. Clinical Immunology, 2017. 178: p. 45–55. pmid:28126470
  25. 25. Tavani F., Zimmerman R. A., Berry G. T., Sullivan K., Gatti R., Bingham P., Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI. Neuroradiology, 2003. 45(5): p. 315–9. pmid:12740724
  26. 26. Saunders-Pullman R.J., Gatti R., Ataxia-telangiectasia: without ataxia or telangiectasia? Neurology, 2009. 73(6): p. 414–5. pmid:19605768
  27. 27. Simonin C., et al., Attenuated presentation of ataxia-telangiectasia with familial cancer history. Journal of Neurology, 2008. 255(8): p. 1261–3. pmid:18575927
  28. 28. Meissner W., Stoppa-Lyonnet D., Couturier J., Hall J., Henry P., Tison F., An atypical variant of ataxia telangiectasia presenting as idiopathic torsion dystonia. Movement Disorders, 2008. 23(1): p. S157–S157.
  29. 29. Paine R.S., Efron M. L., Atypical variants of the ’ataxia telangiectasia’ syndrome. Report of two cases, including one with apparent dominant inheritance. Developmental Medicine & Child Neurology, 1963. 5: p. 14–23. pmid:13941122
  30. 30. Georgiev D., Mehta D., Zacharia A., Vinke R. S., Milabo C., Candelario J., et al., Bilateral Deep Brain Stimulation of the Globus Pallidus Pars Interna in a Patient with Variant Ataxia-Telangiectasia. Movement Disorders Clinical Practice, 2016. 3(4): p. 405–408. pmid:30713931
  31. 31. Schrader C., Capelle H. H., Kinfe T. M., Dengler R., Dressler D., Krauss J. K., Chronic thalamic deep brain stimulation in ataxia telangiectasia (A-T; Louis-Bar-Syndrome). Movement Disorders, 2009. 24: p. S491–S491.
  32. 32. Verhagen M.M., Abdo W. F., Willemsen M. A., Hogervorst F. B., Smeets D. F., Hiel J. A., et al., Clinical spectrum of ataxia-telangiectasia in adulthood. Neurology, 2009. 73(6): p. 430–7. pmid:19535770
  33. 33. de Graaf A.S., de Jong G., Kleijer W. J., An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant. Clinical Neurology & Neurosurgery, 1995. 97(1): p. 1–7.
  34. 34. Shenhod E., et al., Functional parameter measurements in children with ataxia telangiectasia. Dev Med Child Neurol, 2020. 62(2): p. 207–213. pmid:31468510
  35. 35. Schon K., et al., Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. Ann Neurol, 2019. 85(2): p. 170–180. pmid:30549301
  36. 36. van Os N.J.H., et al., Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations. J Med Genet, 2019. 56(5): p. 308–316. pmid:30819809
  37. 37. Gilad S., et al., Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am J Hum Genet, 1998. 62(3): p. 551–61. pmid:9497252
  38. 38. Silvestri G., et al., Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. Journal of Neurology, 2010. 257(10): p. 1738–40. pmid:20480175
  39. 39. Chopra C., Davies G., Taylor M., Anderson M., Bainbridge S., Tighe P., et al., Immune deficiency in Ataxia-Telangiectasia: a longitudinal study of 44 patients. Clinical & Experimental Immunology, 2014. 176(2): p. 275–82. pmid:24387201
  40. 40. Staples E.R., McDermott E. M., Reiman A., Byrd P. J., Ritchie S., Taylor A. M., et al., Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene. Clinical & Experimental Immunology, 2008. 153(2): p. 214–20. pmid:18505428
  41. 41. Saviozzi S., Saluto A., Taylor A. M., Last J. I., Trebini F., Paradiso M. C., et al., A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA. Journal of Medical Genetics, 2002. 39(1): p. 57–61. pmid:11826028
  42. 42. Newrick L., Sharrack N., Hadjivassiliou M., Late-onset ataxia telangiectasia. Neurology: Clinical Practice, 2014. 4(4): p. 365–367.
  43. 43. Chrzanowska K., Stumm M., Bialecka M., Saar K., Bernatowska-Matuszkiewicz E., Michalkiewicz J., et al., Linkage studies exclude the AT-V gene(s) from the translocation breakpoints in an AT-V patient. Clinical Genetics, 1997. 51(5): p. 309–13. pmid:9212178
  44. 44. Reiman A., Srinivasan V., Barone G., Last J. I., Wootton L. L., Davies E. G., et al., Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. British Journal of Cancer, 2011. 105(4): p. 586–91. pmid:21792198
  45. 45. Carranza D., Vega A. K., Torres-Rusillo S., Montero E., Martinez L. J., Santamaria M., et al., Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. NeuroMolecular Medicine, 2017. 19(1): p. 161–174. pmid:27664052
  46. 46. McConville C.M., Stankovic T., Byrd P. J., McGuire G. M., Yao Q. Y., Lennox G. G., et al., Mutations associated with variant phenotypes in ataxia-telangiectasia. American Journal of Human Genetics, 1996. 59(2): p. 320–30. pmid:8755918
  47. 47. Cummins G., et al., Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia. Parkinsonism & Related Disorders, 2013. 19(12): p. 1173–4. pmid:24120321
  48. 48. Schrader C., Cordes A., Hahn M., Dengler R., Dork T., Natural history, phenotype, and genotype of a case of late-onset ataxia telangiectasia. Movement Disorders, 2006. 21: p. S335–S336.
  49. 49. Verhagen M.M., Martin J. J., van Deuren M., Ceuterick-de Groote C., Weemaes C. M., Kremer B. H., et al., Neuropathology in classical and variant ataxia-telangiectasia. Neuropathology, 2012. 32(3): p. 234–44. pmid:22017321
  50. 50. Farnsworth E, W.K., Wright D, Mohammad S.S, Bennetts B, Ho G, A novel ATM deletion in a 2-year-old female with variant Ataxia-telangiectasia. Twin Research and Human Genetics, 2019. 22(5): p. 382.
  51. 51. Exley A.R., et al., Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. Clinical Immunology, 2011. 140(1): p. 26–36. pmid:21459046
  52. 52. Verhagen M.M., Last J. I., Hogervorst F. B., Smeets D. F., Roeleveld N., Verheijen F., et al., Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. Human Mutation, 2012. 33(3): p. 561–71. pmid:22213089
  53. 53. Terenty T.R., Robson P., Walton J. N., Presumed ataxia-telangiectasia in a man. British Medical Journal, 1978. 2(6140): p. 802. pmid:698741
  54. 54. Carrillo F., et al., Prominent oromandibular dystonia and pharyngeal telangiectasia in atypical ataxia telangiectasia. Cerebellum, 2009. 8(1): p. 22–7. pmid:18846412
  55. 55. Byrd P.J., Srinivasan V., Last J. I., Smith A., Biggs P., Carney E. F., Exley A., et al., Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. British Journal of Cancer, 2012. 106(2): p. 262–8. pmid:22146522
  56. 56. Driessen G.J., Jspeert H I., Weemaes C., Harraldsson A., Trip M., Warris A., et al., Severity of antibody deficiency in ataxia telangiectasia is associated with intrinsic defects in B-and T-cell development. Journal of Clinical Immunology, 2012. Conference: p. 15th Biennial Meeting of the European Society for Immunodeficiency, ESID 2012. Florence Italy. Conference Publication: (var.pagings). 32 (SUPPL. 1) (pp S256–S257).
  57. 57. Dork T., Bendix-Waltes R., Wegner R. D., Stumm M., Slow progression of ataxia-telangiectasia with double missense and in frame splice mutations. American Journal of Medical Genetics. Part A, 2004. 126A(3): p. 272–7. pmid:15054841
  58. 58. Albertyn C., Cawley N., Taylor A. T. M., Srinivasan V., Last J. I., Murphy R. P., VARIANT ATAXIA TELANGIECTASIA IN SIBLINGS WITH NORMAL alpha-FETOPROTEIN LEVELS. Journal of Neurology Neurosurgery and Psychiatry, 2010. 81(11): p. E48–E48.
  59. 59. Claes K., Depuydt J., Taylor A. M., Last J. I., Baert A., Schietecatte P., et al., Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. NeuroMolecular Medicine, 2013. 15(3): p. 447–57. pmid:23632773
  60. 60. Mendieta S.G.E., Variant ataxia-telangiectasia in Mennonites and neuromuscular presentations. Movement Disorders, 2013. 28: p. S234–S234.
  61. 61. Saunders-Pullman R., Raymond D., Stoessl A. J., Hobson D., Nakamura K., Pullman S., et al., Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.[Erratum appears in Neurology. 2012 Mar 27;78(13):1029 Note: Nakamura, T [corrected to Nakamura, K]]. Neurology, 2012. 78(9): p. 649–57. pmid:22454271
  62. 62. Paucar M., et al., Variant ataxia-telangiectasia with prominent camptocormia. Parkinsonism Relat Disord, 2019. 62: p. 253–255. pmid:30579816
  63. 63. Taylor A.M., Flude E., Laher B., Stacey M., McKay E., Watt J., et al., Variant forms of ataxia telangiectasia. Journal of Medical Genetics, 1987. 24(11): p. 669–77. pmid:3430541
  64. 64. Fiorilli M., Antonelli A., Russo G., Crescenzi M., Carbonari M., Petrinelli P., Variant of ataxia-telangiectasia with low-level radiosensitivity. Human Genetics, 1985. 70(3): p. 274–7. pmid:2410349
  65. 65. Arıcan P., et al., Variant ataxia-telangiectasia in a child presenting with laryngeal dystonia. Turk J Pediatr, 2020. 62(3): p. 491–494. pmid:32558426
  66. 66. Bistritzer J., et al., Phenotypic variability in patients with unique double homozygous mutations causing variant ataxia telangiectasia. Eur J Paediatr Neurol, 2021. 32: p. 36–39. pmid:33743388
  67. 67. Chamova T., et al., Clinical variability of variant of ataxia-telangiectasia among Bulgarian patients with mutations in ATM. European Journal of Neurology, 2020. 27(Supplement 1): p. 367–368.
  68. 68. McGrath-Morrow S.A., et al., DNA methylation and gene expression signatures are associated with ataxia-telangiectasia phenotype. Sci Rep, 2020. 10(1): p. 7479. pmid:32366930
  69. 69. Nambot S., 58P An atypical late-onset case of homozygous ATM variant supported by a complex molecular mechanism of mosaic uniparental isodisomy. Annals of Oncology, 2020. 31(Supplement 5): p. S1235.
  70. 70. Schoenaker M.H.D., et al., Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents’ perspective. European Journal of Pediatrics, 2020. 179(2): p. 251–256. pmid:31709473
  71. 71. Schröder S., et al., Evidence of pathogenicity for the leaky splice variant c.1066-6T>G in ATM. Am J Med Genet A, 2020. 182(12): p. 2971–2975. pmid:32918381
  72. 72. Shimazaki H., et al., Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene. J Integr Neurosci, 2020. 19(1): p. 125–129. pmid:32259893
  73. 73. Veenhuis S.J.G., et al., Dysarthria in children and adults with ataxia telangiectasia. Dev Med Child Neurol, 2021. 63(4): p. 450–456. pmid:33521952
  74. 74. Thompson S., Iyer A., Byrd P., Taylor M., Spinty S., Dopa-Responsive Dystonia and Chorea as a Presenting Feature in Ataxia-Telangiectasia. Movement Disorders Clinical Practice, 2014. 1(3): p. 249–251. pmid:30713859
  75. 75. Moin M., Aghamohammadi A., Kouhi A., Tavassoli S., Rezaei N., Ghaffari S. R., et al., Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatric Neurology, 2007. 37(1): p. 21–8. pmid:17628218
  76. 76. Boyarchuk O., et al., Clinical and immunological presentation of ataxia-telangiectasia. Archives of the Balkan Medical Union, 2020. 55(4): p. 573–581.
  77. 77. Oska S., et al., Melanoma arising in a patient with ataxia-telangiectasia: A call for full skin examinations in this patient population. Pediatr Dermatol, 2020. 37(4): p. 767–768.
  78. 78. Azarsiz E., Karaca N. E., Gunaydin N. C., Gulez N., Ozturk C., Aksu G., et al., Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? International Journal of Immunopathology & Pharmacology, 2014. 27(3): p. 421–7. pmid:25280033
  79. 79. Li G.L., Waite E., and Wolfson J., T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib). Blood Advances, 2017. 1(27): p. 2724–2728. pmid:29296924
  80. 80. Mock C., Coleman G., Ree J. H., Abuelo D. N., Crowley J. P., Ataxia telangiectasia and acinic cell carcinoma of the parotid gland. Journal of Surgical Oncology, 1988. 39(2): p. 133–8. pmid:3172793
  81. 81. Stenlake K., Marion M. H., An unusual presentation of ataxia-telangiectasia. Journal of Neurology, 2004. 251: p. 66–67. pmid:14999491
  82. 82. Sze S.K., et al., Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol, 2019.
  83. 83. Trimis G.G., Athanassaki C. K., Kanariou M. M., Giannoulia-Karantana A. A., Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia. Journal of Postgraduate Medicine, 2004. 50(4): p. 270–1. pmid:15623968
  84. 84. Bernard G., Shevell M., The wobbly child: an approach to inherited ataxias. Seminars in Pediatric Neurology, 2008. 15(4): p. 194–208. pmid:19073328
  85. 85. Osundwa V.M., Dawod S. T., The occurrence of ataxia-telangiectasia and common variable immunodeficiency in siblings: case report. Annals of Tropical Paediatrics, 1994. 14(1): p. 71–3. pmid:7516139
  86. 86. Drolet B.A., Drolet B., Zvulunov A., Jacobsen R., Troy J., Esterly N. B., Cutaneous granulomas as a presenting sign in ataxia-telangiectasia. Dermatology, 1997. 194(3): p. 273–5. pmid:9187847
  87. 87. Akturk H., Sutcu M., Somer A., Piskin S., Acar M., Ozmen M., et al., Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. World Journal of Pediatrics, 2017. 13(5): p. 465–471. pmid:28120234
  88. 88. Isaian A., et al., Erratum: BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia (Journal of Clinical Immunology ). Journal of Clinical Immunology, 2010. 30(4): p. 620.
  89. 89. Iyer A., Taylor M., Spinty S., Dopa-responsive dystonia in ataxia telangiectasia. Developmental Medicine and Child Neurology, 2014. Conference: p. 2014 Annual Meeting of the British Paediatric Neurology Association. Winchester United Kingdom. Conference Publication: (var.pagings). 56 (SUPPL. 1) (pp 58). pmid:30713859
  90. 90. Sanal O., Ozbas-Gerceker F., Yel L., Ersoy F., Tezcan I., Berkel A. I., et al., Defective anti-polysaccharide antibody response in patients with ataxia-telangiectasia. Turkish Journal of Pediatrics, 2004. 46(3): p. 208–13. pmid:15503472
  91. 91. Frais M.A., Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome). Journal of Medical Genetics, 1979. 16(2): p. 160–1. pmid:458837
  92. 92. Chen K.T.K., Overberg‐Schmidt U. S., Henze G., Low grade non‐hodgkin’s lymphoma after high grade non‐hodgkin’s lymphoma in a child with ataxia teleangiectasia. Cancer, 1994. 74(5): p. 1649–1650.
  93. 93. Jacobs M.F., et al., Hepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia. J Pediatr Hematol Oncol, 2020. 42(6): p. e463–e465. pmid:31259827
  94. 94. Kim M., et al., Clinical characteristics of ataxia-telangiectasia presenting dystonia as a main manifestation. Clin Neurol Neurosurg, 2020. 199: p. 106267. pmid:33080427
  95. 95. Mandola A.B., et al., Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years’ Experience. Front Immunol, 2019. 10: p. 2940. pmid:31921190
  96. 96. Rodriguez R.S., et al., Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family. Mol Syndromol, 2021. 12(5): p. 289–293. pmid:34602955
  97. 97. Sze S.K., et al., Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol, 2021. 43(1): p. e138–e140. pmid:31743320
  98. 98. Veiga-Fernandez A., et al., Ataxia-teleangiectasia followed up in a hereditary gynaecological cancer unit of a tertiary hospital. International Journal of Gynecological Cancer, 2020. 30(SUPPL 4): p. A91–A92.
  99. 99. Masri A.T., Bakri F. G., Al-Hadidy A. M., Musharbash A. F., Al-Hussaini M., Ataxia-telangiectasia complicated by craniopharyngioma—a new observation. Pediatric Neurology, 2006. 35(4): p. 287–8. pmid:16996406
  100. 100. Tabatabaiefar M.A., Alipour P., Pourahmadiyan A., Fattahi N., Shariati L., Golchin N., et al., A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. Journal of the Neurological Sciences, 2017. 379: p. 212–216. pmid:28716242
  101. 101. Ben Abdallah Chabchoub R., et al., [Ataxie telangiectasia et telangiectasies vesicales]. Tunisie Medicale, 2014. 92(11): p. 695. pmid:25867155
  102. 102. Ahmed O., Felimban Y., and Almehdar A., T cell ALL in a child with Ataxia telangiectasia; diagnosis and management challenges. Hematology, 2021. 26(1): p. 348–354. pmid:33843495
  103. 103. Jawad T., Stallings R. L., Lynch T., Late presentation of ataxia telangiectasia (AT). Movement Disorders, 2004. 19: p. S21–S22.
  104. 104. Lerner B., Ataxia-Telangiectasia. Archives of Dermatology, 1971. 104(3): p. 332–&.
  105. 105. Tomioka H., Kaneoya A., Mochizuki Y., Harada H., Primary diffuse large b-cell lymphoma arising in the tongue accompanied by ataxia-telangiectasia: A case report. Journal of Clinical and Diagnostic Research, 2015. 9(6). pmid:26266230
  106. 106. Dawson A.J., Marles S., Tomiuk M., Riordan D., Gatti R. A., Ataxia-telangiectasia with female fertility. American Journal of Medical Genetics. Part A, 2015. 167A(8): p. 1937–9. pmid:25914063
  107. 107. Macias M.A., Delamorena M., Bahna S. L., Day N. K., Good R. A., Ataxia Telangiectasia with Agammaglobulinemia-G and Masquerading as Chiari Malformation. Journal of Allergy and Clinical Immunology, 1993. 91(1): p. 145–145.
  108. 108. Harley R.D., Baird H. W., Craven E. M., Ataxia-telangiectasia. Report of seven cases. Archives of Ophthalmology, 1967. 77(5): p. 582–92. pmid:4164541
  109. 109. Seshachalam A., Cyriac S., Reddy N., Gnana S., Ataxia telangiectasia: Family management. Indian Journal of Human Genetics, 2010. 16(1): p. 39–42. pmid:20838492
  110. 110. Alonazi N.A., Hundallah K. J., Al Hashem A. M., Mohamed S., A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. Neurosciences, 2018. 23(2): p. 162–164. pmid:29664460
  111. 111. Utian H.L. and Plit M., Ataxia Telangiectasia. J Neurol Neurosurg Psychiatry, 1964. 27: p. 38–40. pmid:14123922
  112. 112. Barsky S., Gigli I., Ataxia Telangiectasia. Archives of Dermatology, 1960. 82(4): p. 657–658.
  113. 113. Harris V.J., Seeler R. A., Ataxia-telangiectasia and Hodgkin’s disease. Cancer, 1973. 32(6): p. 1415–20. pmid:4757931
  114. 114. Matsuoka M., Matsuoka H., Okada J., Urisu A., Sato C., Torii S., et al., Follow-up studies of immunological disorders in patients with ataxia-telangiectasia II. Study of a boy with T cell malignancy. Japanese Journal of Clinical Immunology, 1983. 6(4): p. 249–258.
  115. 115. Ohta S., Katsura T., Shimada M., Shima A., Chishiro H., Matsubara H., Ataxia-telangiectasia with papillary carcinoma of the thyroid. American Journal of Pediatric Hematology/Oncology, 1986. 8(3): p. 255–7. pmid:3766914
  116. 116. Gabhale Y., Vaideeswar P., Bavdekar S. B., Fatal hemoptysis in a child with ataxia-telangiectasia: zeroing down on the rare cause. Journal of Postgraduate Medicine, 2010. 56(4): p. 293–6. pmid:20935403
  117. 117. Andrade I.G.A., et al., Selenium levels and glutathione peroxidase activity in patients with ataxia-telangiectasia: association with oxidative stress and lipid status biomarkers. Orphanet J Rare Dis, 2021. 16(1): p. 83. pmid:33579341
  118. 118. Cruz Martinez A., Barrio M., Gutierrez A. M., Lopez E., Abnormalities in sensory and mixed evoked potentials in ataxia telangiectasia. Journal of Neurology Neurosurgery and Psychiatry, 1977. 40(1): p. 44–49.
  119. 119. de Jonge J., Tijssen C. C., Ataxia telangiectasia in a brother and sister at older age. Clinical Neurology & Neurosurgery, 1988. 90(3): p. 279–81.
  120. 120. Saeed M., Ataxia telangiectasia in two brothers and one sister. Pakistan Paediatric Journal, 2014. 38(4): p. 252–256.
  121. 121. Kamiya M., et al., Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review. Pathol Int, 2001. 51(4): p. 271–6. pmid:11350609
  122. 122. Ingale S.Y., Yadav P., Mishra L., Sukumaran A., Ataxia Telangiectasia: A Rare Case Report. Journal of Evolution of Medical and Dental Sciences-Jemds, 2016. 5(74): p. 5515–5516.
  123. 123. Stell R., Bronstein A. M., Plant G. T., Harding A. E., Ataxia telangiectasia: a reappraisal of the ocular motor features and their value in the diagnosis of atypical cases. Movement Disorders, 1989. 4(4): p. 320–9. pmid:2811891
  124. 124. Sharma A., Buxi G., Yadav R., Kohli A., Ataxia telangiectasia: A report of two cousins and review of literature. Indian Journal of Medical and Paediatric Oncology, 2011. 32(4): p. 217–222. pmid:22563157
  125. 125. Bagis H S.H., Aydin H, Ozturk O, Ataxia telangiectasia: Case report. Gazi Medical Journal 2019. pmid:31237844
  126. 126. Kanaganayagam A., Ataxia telangiectasia—a case report. Medical Journal of Malaysia, 1980. 35(2): p. 139–43.
  127. 127. Sasihuseyinoglu A.S., Yllmaz M., Bisgin A., Dogruel D., Altintas D. U., Duyuler G., et al., Ataxia-Telangiectasia Clinical and Laboratory Features: Single Center Results. Pediatric, Allergy, Immunology, and Pulmonology, 2018. 31(1): p. 9–14.
  128. 128. Aghamohammadi A., Imai K., Moazzami K., Abolhassani H., Tabatabaeiyan M., Parvaneh N., et al., Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. Journal of Investigational Allergology & Clinical Immunology, 2010. 20(5): p. 442–5.
  129. 129. Maqbool S., Ayub Z., Hussain W., Ataxia-telangiectasia in children. JPMA—Journal of the Pakistan Medical Association, 1992. 42(4): p. 101–2. pmid:1597919
  130. 130. Porras O., Telatar M., Arguedas O., Abdelnour A., Leiva I., Gatti R. A., Ataxia-Telangiectasia in Costa Rica: Clinical, laboratory and genetic characteristics. Molecular Immunology, 1998. 35(11–12): p. 796–796.
  131. 131. Sales V.S.F., Dias S. M. M., Novaes A. E. M., Rego K. D., Santos E. S. C., Junior G. C., et al., Ataxia-telangiectasia in rio grande do norte: Immunological and clinical features of 5 patients. Journal of Clinical Immunology, 2017. Conference: p. 7th Meeting of the Latin American Society for Immunodeficiencies, LASID 2017. Brazil. 37 (1 Supplement 1) (pp S42–S43).
  132. 132. Sfaihi L., Stoppa Lyonnet D., Ben Ameur S., Dubois D’enghien C., Kamoun T., Barbouch M. R., et al., Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases. Tunisie Medicale, 2015. 93(8–9): p. 511–5. pmid:26815515
  133. 133. Etzioni A., Ben-Barak A., Peron S., Durandy A., Ataxia-telangiectasia in twins presenting as autosomal recessive hyper-immunoglobulin M syndrome. Israel Medical Association Journal: Imaj, 2007. 9(5): p. 406–7. pmid:17591387
  134. 134. Kalmarzi R.N., Aghamohammadi A., Movahedi M., Tavakol M., Darabi B., Rezaei N., et al., Ataxia-telangiectasia presenting as hyper-immunoglobulin M syndrome. Allergy, 2012. 67: p. 274–275.
  135. 135. Perreault S., Bernard G., Lortie A., Le Deist F., Decaluwe H., Ataxia-telangiectasia presenting with a novel immunodeficiency. Pediatric Neurology, 2012. 46(5): p. 322–4. pmid:22520355
  136. 136. Schwartzman J.S., Sole D., Naspitz C. K., Ataxia-telangiectasia: a clinical and laboratory review study of 14 cases. Allergologia et Immunopathologia, 1990. 18(2): p. 105–11. pmid:1695474
  137. 137. Chaouki S., Benjelloun Dakhama B. S., Alaoui K., Arqam L., Atmani S., Bouharrou A., et al., Ataxia-telangiectasia: Case reports and literature review. Journal de Pediatrie et de Puericulture, 2008. 21(2): p. 98–101.
  138. 138. Alterman N., Fattal-Valevski A., Moyal L., Crawford T. O., Lederman H. M., Ziv Y., et al., Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype. American Journal of Medical Genetics. Part A, 2007. 143A(16): p. 1827–34. pmid:17632790
  139. 139. Larnaout A., Belal S., Ben Hamida C., Ben Hamida M., Hentati F., Atypical ataxia telangiectasia with early childhood lower motor neuron degeneration: a clinicopathological observation in three siblings. Journal of Neurology, 1998. 245(4): p. 231–5. pmid:9591225
  140. 140. Afifi P.O., Elsanadiky H. H., Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. International Journal of Pediatric Otorhinolaryngology, 2017. 92: p. 94–98. pmid:28012542
  141. 141. Al-Baradie R., Chronic childhood ataxia: ataxia-telangiectasia. Neurosciences, 2010. 15(4): p. 296–7. pmid:20956936
  142. 142. Matos J., Ornellas L., Carvalho B., Clinical features of patients with ataxia-telangiectasia at reference center in Sao Paulo, Brazil. World Allergy Organization Journal, 2012. Conference: p. 22nd World Allergy Congress. Cancun Mexico. Conference Publication: (var.pagings). 5 (SUPPL. 2) (pp S189–S190).
  143. 143. Mahadevappa M., Santhosh D. V., Netravathi M., Ravi Y., Pal P. K., Clinical profile of hundred patients with ataxia telangiectasia from India. Parkinsonism and Related Disorders, 2016. Conference: p. 21st World Congress on Parkinson’s Disease and Related Disorders. Milan Italy. Conference Publication: (var.pagings). 22 (SUPPL. 2) (pp e153–e154).
  144. 144. Ehlayel M.S., Elsaid M. F., Shami R., Salem K., Abdulbari Bener A., Clinico-radiological correlation in children with ataxia telangiectasia in Qatar. Allergy: European Journal of Allergy and Clinical Immunology, 2015. Conference: p. 34th Congress of the European Academy of Allergy and Clinical Immunology. Barcelona Spain. Conference Publication: (var.pagings). 70 (SUPPL. 101) (pp 215).
  145. 145. Assencioferreira V.J., Bancovsky I., Diament A. J., Gherpelli J. L. D., Moreira F. A., Computed-Tomography in Ataxia-Telangiectasia. Journal of Computer Assisted Tomography, 1981. 5(5): p. 660–661. pmid:7298943
  146. 146. Rezaei N., Pourpak Z., Aghamohammadi A., Farhoudi A., Movahedi M., Gharagozlou M., et al., Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. American Journal of Reproductive Immunology, 2006. 56(2): p. 145–51. pmid:16836617
  147. 147. Coskun M., Aydingoz U., Tacal T., Ariyurek M., Demirkazik F., Oguzkurt L., CT and MR imaging of splenic leiomyoma in a child with ataxia telangiectasia. Pediatric Radiology, 1995. 25(1): p. 45–7. pmid:7761162
  148. 148. Joshi R.K., Al Asiri R. H., Halekm A., Abanmi A., Patel C. K., Cutaneous granuloma with ataxia telangiectasia—a case report and review of literature. Clinical and Experimental Dermatology, 1993. 18(5): p. 458–561. pmid:8252771
  149. 149. Erman B., Demirtas D., Bildik H. N., Cagdas-Ayvaz D., Sanal O., Tezcan I., Defective pneumococcal antibody response in patients with recurrent respiratory tract infections. Turkish Journal of Pediatrics, 2017. 59(5): p. 555–560. pmid:29745117
  150. 150. Shafiei A.E., MA, Delay diagnosis of ataxia-telangiectasia in a 13-year-old girl presenting as Cerebral Palsy and Hodgkin lymphoma. Allergy: European Journal of Allergy and Clinical Immunology, 2019. 73(Supplement 105): p. 461.
  151. 151. Das S.D., S; Thomas M; Yoganathan S; Srivastava V; Cleave AS; Barney A, A descriptive study with molecular and cytogenetic analysis in patients of ataxia telangiectasia(AT) from the Indian subcontinent. International Parkinson and Movement Disorder Society, 2019.
  152. 152. Katafuchi Y., Matsuishi T., Ishihara O., Terasawa K., Okudera T., Ejima Y., Diagnosis of Ataxia-Telangiectasia—Computed-Tomography and X-Ray-Sensitivity. Brain & Development, 1985. 7(2): p. 161–161.
  153. 153. Shabestari M.S., Maljaei S. H., Baradaran R., Barzegar M., Hashemi F., Mesri A., Rezaei N., Distribution of primary immunodeficiency diseases in the Turk ethnic group, living in the northwestern Iran. Journal of Clinical Immunology, 2007. 27(5): p. 510–6. pmid:17588143
  154. 154. Kraus M., Lev A., Simon A. J., Levran I., Nissenkorn A., Levi Y. B., et al., Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia. Journal of Clinical Immunology, 2014. 34(5): p. 561–72. pmid:24789685
  155. 155. Saemundsen A.K., Berkel A. I., Henle W., Henle G., Anvret M., Sanal O., et al., Epstein-Barr-virus-carrying lymphoma in a patient with ataxia-telangiectasia. British Medical Journal Clinical Research Ed., 1981. 282(6262): p. 425–7. pmid:6257325
  156. 156. Gathmann B., et al., The European internet-based patient and research database for primary immunodeficiencies: Update 2011. Clinical and Experimental Immunology, 2012. 167(3): p. 479–491. pmid:22288591
  157. 157. Bazregari S., Azizi G., Tavakol M., Asgardoon M. H., Kiaee F., Tavakolinia N., et al., Evaluation of infectious and non-infectious complications in patients with primary immunodeficiency. Central European Journal of Immunology, 2017. 42(4): p. 336–341. pmid:29479289
  158. 158. Nasrullayeva G., Mammadova V., Family case of ataxiatelangiectasiya. Journal of Clinical Immunology, 2012. Conference: p. 15th Biennial Meeting of the European Society for Immunodeficiency, ESID 2012. Florence Italy. Conference Publication: (var.pagings). 32 (SUPPL. 1) (pp S398–S399).
  159. 159. Hernandez D., McConville C. M., Stacey M., Woods C. G., Brown M. M., Shutt P., et al., A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. Journal of Medical Genetics, 1993. 30(2): p. 135–40. pmid:8445618
  160. 160. Ghosh S., Schuster F. R., Binder V., Niehues T., Baldus S. E., Seiffert P., et al., Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia. Journal of Clinical Immunology, 2012. 32(3): p. 438–40. pmid:22354567
  161. 161. Vilozni D., Berkun Y., Levi Y., Weiss B., Jacobson J. M., Efrati O., The feasibility and validity of forced spirometry in ataxia telangiectasia. Pediatric Pulmonology, 2010. 45(10): p. 1030–6. pmid:20717907
  162. 162. Bousfiha A.A., et al., First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998–2012). Journal of Clinical Immunology, 2014. 34(4): p. 459–68. pmid:24619622
  163. 163. Anonymous , The French national registry of primary immunodeficiency diseases. Clinical Immunology, 2010. 135(2): p. 264–272. pmid:20399414
  164. 164. Rezaei N., Aghamohammadi A., Moin M., Pourpak Z., Movahedi M., Gharagozlou M., et al., Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. Journal of Clinical Immunology, 2006. 26(6): p. 519–32. pmid:17024564
  165. 165. Senturk N., Hindioglu U., Sahin S., Gokoz A., Granulomatous skin lesions in a patient with ataxia telangiectasia. British Journal of Dermatology, 1998. 139(3): p. 543–4.
  166. 166. Alsalamah M., Roifman C. M., Hemophagocytic lymphohistiocytosis associated with ataxia telangiectasia. LymphoSign Journal, 2017. 4(3): p. 113–116.
  167. 167. Chessa L., Antonozzi I., Fiorilli M., Arslanian A., Prudente S., Piombo G., et al., Histopathologic Findings in a Fetus with Prenatally Diagnosed Ataxia-Telangiectasia. American Journal of Human Genetics, 1993. 53(3): p. 1539–1539.
  168. 168. Nam N.J., Herzog R., Humoral and cell-mediated immunity in two brothers with ataxia-telangiectasia. Annals of Allergy Asthma & Immunology, 2008. 100(1): p. A50–A50.
  169. 169. de Laet C., Casimir G., Duchateau J., Vamos E., Devalck C., Sariban E., et al., [Leukemia lymphoma T-cell as first manifestation of ataxia-telangiectasia]. Archives de Pediatrie, 1996. 3(7): p. 681–4. pmid:8881179
  170. 170. Marshall C., Life through the eyes of a disabled person. Archives of Disease in Childhood, 2004. 89(9): p. 887. pmid:15321877
  171. 171. Seemanova E., Misovicova N., Schindler D., Louis-Bar syndrome of ataxia telangiectasia in consanguinous family. Cesko Slovenska Pediatrie, 2006. 61(11): p. 666–668.
  172. 172. Nguyen K., Missirian C., Zattara H., Stoppa-Lyonnet D., Azulay J., A mild form of ataxia-telangiectasia without telangiectasia caused by a novel mutation in the ATM gene. Movement Disorders, 2006. 21: p. S408–S408.
  173. 173. Balta G., Patiroglu T., Gumruk F., Sanal O., Gurgey A., Altay C., Molecular characterization of a prototype family harboring two genomic instability disorders: Ataxia telangiectasia and fanconi anemia. Blood, 2007. 110(11): p. 501A–501A.
  174. 174. Jeddane L., Ailal F., Dubois-d’Enghien C., Abidi O., Benhsaien I., Kili A., et al., Molecular defects in Moroccan patients with ataxia-telangiectasia. NeuroMolecular Medicine, 2013. 15(2): p. 288–94. pmid:23322442
  175. 175. Micol R., Ben Slama L., Suarez F., Le Mignot L., Beaute J., Mahlaoui N., et al., Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. Journal of Allergy & Clinical Immunology, 2011. 128(2): p. 382–9.e1. pmid:26435720
  176. 176. Kupeli S., Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. Journal of Cancer Research and Therapeutics, 1073. 13(6): p. 1073–1074.
  177. 177. Mortaz E., Marashian S. M., Ghaffaripour H., Varahram M., Mehrian P., Dorudinia A., et al., A new ataxia-telangiectasia mutation in an 11-year-old female. Immunogenetics, 2017. 69(7): p. 415–419. pmid:28488180
  178. 178. Fukao T., Tashita H., Teramoto T., Inoue R., Kaneko H., Komiyama K., et al., Novel exonic mutation (5319 G to A) resulting in two aberrantly spliced transcripts of the ATM gene in a Japanese patient with ataxia-telangiectasia. Human Mutation, 1998. Suppl 1: p. S223–5.
  179. 179. Ates E.T., A; Soylemez MA; Geckinli BB; Ata P; Arman A; Guney AI, A novel intronic ATM gene mutation affecting splicing in a patient with Ataxia-Telangiectasia. European Journal of Human Genetics, 2019.
  180. 180. Landoure G., Mochel F., Meilleur K., Ly M., Sangare M., Bocoum N., et al., Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. Journal of Neurology, 2013. 260(1): p. 324–6. pmid:23142947
  181. 181. Saeidi K.S.G., N; Mansouri Nejad SE, A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia. Iranian Journla of Child Neurology, 2018. 12(4).
  182. 182. Galal N., Meshaal S., Elhawary R., ElAziz D. A., Alkady R., Lotfy S., et al., Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital’s 5-Year Experience. Journal of Clinical Immunology, 2016. 36(7): p. 649–655. pmid:27484503
  183. 183. Angele S., Lauge A., Fernet M., Moullan N., Beauvais P., Couturier J., et al., Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation. Human Mutation, 2003. 21(2): p. 169–70. pmid:12552566
  184. 184. Khumalo N.P., Joss D. V., Huson S. M., Burge S., Pigmentary anomalies in ataxia—telangiectasia: a clue to diagnosis and an example of twin spotting. British Journal of Dermatology, 2001. 144(2): p. 369–71.
  185. 185. Sheikhbahaei S., et al., Pregnancy, child bearing and prevention of giving birth to the affected children in patients with primary immunodeficiency disease; a case-series. BMC Pregnancy Childbirth, 2018. 18(1): p. 299. pmid:29996795
  186. 186. Sridharan R., Radhakrishnan K., Ashok P. P., Mousa M. E., Prevalence and pattern of spinocerebellar degenerations in northeastern Libya. Brain, 1985. 108(Pt 4): p. 831–43. pmid:4075075
  187. 187. Reda S.M., Afifi H. M., Amine M. M., Primary immunodeficiency diseases in Egyptian children: A single-center study. Journal of Clinical Immunology, 2009. 29(3): p. 343–351. pmid:19002574
  188. 188. Al-Saud B., et al., Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013). Journal of Clinical Immunology, 2015. 35(7): p. 651–660. pmid:26395454
  189. 189. Aghamohammadi A., Moein M., Farhoudi A., Pourpak Z., Rezaei N., Abolmaali K., et al., Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults. Journal of Clinical Immunology, 2002. 22(6): p. 375–80. pmid:12462337
  190. 190. Ruggieri M., Arcidiacono G., Tine A., Di Mauro C., Pavone L., Pulmonary valve stenosis in a patient with ataxia telangiectasia. European Heart Journal, 1996. 17(6): p. 968.
  191. 191. Porcedda P., Turinetto V., Brusco A., Cavalieri S., Lantelme E., Orlando L., et al., A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry Part A: The Journal of the International Society for Analytical Cytology, 2008. 73(6): p. 508–16. pmid:18431795
  192. 192. Mancebo E., Bernardo I., Castro M. J., Fernandez-Martinez F. J., Barreiro E., De-Pablos P., et al., Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis. Prenatal Diagnosis, 2007. 27(9): p. 861–4. pmid:17600866
  193. 193. Nagasravani J., Chacham S., Narayan Reddy U., Narsing Rao J., Rao S. P., Mahmood A., A rare case of ataxia telangiectasia in a 9-year-old female child. Pediatric Neurology, 2014. 51(4): p. 583–4. pmid:25152967
  194. 194. Patiroglu T., Murataldi S., Ozkul Y., Koklu E., Report of a family with Fanconi anemia and ataxia-telangiectasia. Turkish Journal of Haematology, 2004. 21(1): p. 33–37. pmid:27263645
  195. 195. Berkun Y., Vilozni D., Levi Y., Borik S., Waldman D., Somech R., et al., Reversible airway obstruction in children with ataxia telangiectasia. Pediatric Pulmonology, 2010. 45(3): p. 230–5. pmid:20146367
  196. 196. Ehlayel M., de Beaucoudrey L., Fike F., Nahas S. A., Feinberg J., Casanova J. L., et al., Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia. Journal of Allergy & Clinical Immunology, 2008. 122(6): p. 1217–9. pmid:26435720
  197. 197. Adeli M., Hendaus M., Nisar S., Skin ulcers leading to residual hypo pigmented lesions with failure to thrive in ataxia telangiectasia case: A case report. Journal of Clinical Immunology, 2018. Conference: p. 2018 CIS Annual Meeting: Immune Deficiency and Dysregulation North American Conference. Canada. 38 (3) (pp 405).
  198. 198. Yareeda S., Rupam B., Rukmini M., Ak M., Jabeen S. A., The spectrum of clinical profile of patients with ataxia telengiectasia: A case series from nims. Annals of Indian Academy of Neurology, 2014. Conference: p. 22nd Annual Conference of the Indian Academy of Neurology, IANCON 2014. Chandigarh India. Conference Publication: (var.pagings). 17 (SUPPL. 2) (pp S173).
  199. 199. De Silva N.R., Gunawardena S., Rathnayake D., Wickramasingha G. D., Spectrum of primary immunodeficiency disorders in Sri Lanka. Allergy, Asthma and Clinical Immunology, 2013. 9(1). pmid:23256764
  200. 200. Berkel A.I., Ersoy F., Epstein L. B., Spitler L. E., Transfer factor therapy in ataxia—telangiectasia. Clinical & Experimental Immunology, 1977. 29(3): p. 376–84. pmid:201409
  201. 201. Ersoy F., Berkel A. I., Sanal O., Oktay H., Twenty-year follow-up of 160 patients with ataxia-telangiectasia. Turkish Journal of Pediatrics, 1991. 33(4): p. 205–15. pmid:1814037
  202. 202. Unsteady gait—Ataxia-telangiectasia. Postgraduate Medical Journal, 2006. 82(967).
  203. 203. Meyts I., Weemaes C., De Wolf-Peeters C., Proesmans M., Renard M., Uyttebroeck A., et al., Unusual and severe disease course in a child with ataxia-telangiectasia. Pediatric Allergy & Immunology, 2003. 14(4): p. 330–3.
  204. 204. Claret Teruel G., et al., Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients. Pediatric Allergy & Immunology, 2005. 16(7): p. 615–8. pmid:16238588
  205. 205. Amirifar P., et al., The spectrum of ATM gene mutations in Iranian patients with ataxia-telangiectasia. Pediatr Allergy Immunol, 2021. 32(6): p. 1316–1326. pmid:33547824
  206. 206. Arani M.H., et al., Clinical complications and their management in a child with ataxia-telangiectasia (A-T): A case report study. Clinical Case Reports, 2021. 9(1): p. 556–559. pmid:33505696
  207. 207. Asmari W.N., et al., Novel Genetic Variant of Ataxia Telangiectasia Presenting with Necrotising Pneumonia and Bronchopleural Fistulae at the Age of 4 Years. J Coll Physicians Surg Pak, 2020. 30(10): p. 1102–1104. pmid:33143838
  208. 208. Cao J., et al., Identifying ataxia-telangiectasia in cancer patients: Novel insights from an interesting case and review of literature. Clin Case Rep, 2021. 9(2): p. 995–1009. pmid:33598286
  209. 209. Cekic S., et al., The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study. Pediatr Allergy Immunol, 2020. 31(5): p. 528–536. pmid:32060950
  210. 210. Dewang S., et al., Cutaneous granulomas in a child with Ataxia telangiectasia—A rare association. Journal of Pakistan Association of Dermatologists, 2021. 30(3): p. 511–515.
  211. 211. Haskologlu Z.S., et al., Does the hyper igm phenotype affect prognosis in ataxia telangiectasia? Asthma Allergy Immunology, 2020. 18(1): p. 38–46.
  212. 212. Lee H.Y., et al., Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report. BMC Med Genomics, 2021. 14(1): p. 204. pmid:34404412
  213. 213. Mahadevappa M., et al., A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center. Annals of Movement Disorders, 2020. 3(1): p. 33–38.
  214. 214. Marquez W.B., L; Jaramillo L, Ataxia Telangiectasia and Common Variable Immunodeficiency with B-cell Lymphoma in Adolescent. Journal of Clinical Immunology, 2019.
  215. 215. Mathew M.G., Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated. J Family Med Prim Care, 2020. 9(2): p. 1199–1201. pmid:32318493
  216. 216. Perez Maturo J., et al., Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again. Mov Disord Clin Pract, 2020. 7(6): p. 727–729. pmid:32775531
  217. 217. Scott O., et al., An atypical presentation of ataxia telangiectasia in a school-aged boy secondary to an intronic mutation. Lymphosign Journal-the Journal of Inherited Immune Disorders, 2020. 7(2): p. 57–60.
  218. 218. Shad T.M., et al., Variable Abnormalities in T and B Cell Subsets in Ataxia Telangiectasia. Journal of Clinical Immunology, 2021. 41(1): p. 76–88. pmid:33052516
  219. 219. Szczawińska-Popłonyk A., Ossowska L., and Jończyk-Potoczna K., Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report. Front Pediatr, 2020. 8: p. 570330. pmid:33330270
  220. 220. Tomacinschii C., et al., ABCL-311: The Burden of Non-Hodgkin Lymphoma Developed in an Ataxia Telangiectasia Child. Clinical Lymphoma, Myeloma and Leukemia, 2020. 20(Supplement 1): p. S272–S273.
  221. 221. Villagaray-Pacheco N., Franco-Bustamante K., and Cordova-Calderon W., 8-year experience with ataxia telangiectasia: A series of 7 cases. Romanian Journal of Neurology/ Revista Romana de Neurologie, 2021. 20(2): p. 200–203.
  222. 222. Nowak-Wegrzyn A.H., Lederman H. M., A 7-year-old girl with cerebral palsy and multiple warts. Annals of Allergy, Asthma and Immunology, 1998. 81(3): p. 195–201. pmid:9759794
  223. 223. Datta V., Chaturvedi P., Ataxia telangiectasia. Indian Pediatrics, 1999. 36(12): p. 1278. pmid:10745377
  224. 224. Tattersall R., Toghill P. J., Ataxia telangiectasia. Proceedings of the Royal Society of Medicine, 1970. 63(5): p. 453. pmid:5453421
  225. 225. Wong V., Yu Y. L., Chan-Lui W. Y., Woo E., Yeung C. Y., Ataxia telangiectasia in Chinese children. A clinical and electrophysiological study. Clinical Neurology & Neurosurgery, 1987. 89(3): p. 137–44. pmid:3665286
  226. 226. Rondon-Melo S., de Almeida I. J., Andrade C. R. F., Sassi F. C., Molini-Avejonas D. R., Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. The American Journal of Case Reports, 2017. 18: p. 783–789. pmid:28698541
  227. 227. Charlesworth G., Mohire M. D., Schneider S. A., Stamelou M., Wood N. W., Bhatia K. P., Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology, 2013. 81(13): p. 1148–51. pmid:23946315
  228. 228. Doshi A., Ryu J., Thornburg C. D., Hershey D., Cherry R., Milligan K., et al., Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. Annals of Allergy, Asthma, & Immunology, 2016. 117(3): p. 221–6.
  229. 229. Rao S.R., Iyer R. S., Gladstone B., Advani S. H., Ataxia telangiectasia with acute lymphoblastic leukemia. Indian Pediatrics, 1993. 30(2): p. 257–61. pmid:8375893
  230. 230. George S.M., Mathews M. C., Ataxia telangiectasia: Case report from a rural hospital in Nepal and current management recommendation. Journal of Nepal Paediatric Society, 2014. 34(2): p. 138–140.
  231. 231. Dunn H.G., Meuwissen H., Livingstone C. S., Pump K. K., Ataxia-Telangiectasia. Canadian Medical Association Journal, 1964. 91: p. 1106–18. pmid:14229760
  232. 232. Smeby B., Ataxia-Telangiectasia. Acta Paediatrica Scandinavica, 1966. 55(2): p. 239–&.
  233. 233. Leuzzi V., D’Agnano D., Menotta M., Caputi C., Chessa L., Magnani M., Ataxia-telangiectasia A new remitting form with a peculiar transcriptome signature. Neurology-Genetics, 2018. 4(2). pmid:29600275
  234. 234. Siekert R.G., Keith H. M., Dion F. R., Ataxia-Telangiectasia in Children. Proceedings of the Staff Meetings of the Mayo Clinic, 1959. 34(25): p. 581–587. pmid:14446508
  235. 235. Fukao T., Song X. Q., Yoshida T., Tashita H., Kaneko H., Teramoto T., et al., Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T—>A, and 7883del5, the latter two being relatively common mutations. Human Mutation, 1998. 12(5): p. 338–43. pmid:9792410
  236. 236. Navratil M., Duranovic V., Nogalo B., Svigir A., Dumbovic Dubravcic I., Turkalj M., Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. The American Journal of Case Reports, 2015. 16: p. 631–6. pmid:26380989
  237. 237. Gimeno A., Liano H., Kreisler M., Ataxia-telangiectasia with absence of IgG. Journal of the Neurological Sciences, 1969. 8(3): p. 545–54. pmid:5807289
  238. 238. Datta H., Datta S., Panja S., Ataxica telengiectasia (Louis-Bar syndrome). Journal of the Indian Medical Association, 2001. 99(2): p. 106–7. pmid:11482802
  239. 239. Aygun F.D., Nepesov S., Cokugras H., Camcioglu Y., Bladder Wall Telangiectasia in a Patient with Ataxia-Telangiectasia and How to Manage? Case Reports in Pediatrics, 2015.
  240. 240. Shimoda K., Mimaki M., Fujino S., Takeuchi M., Hino R., Uozaki H., et al., Brain edema with clasmatodendrosis complicating ataxia telangiectasia. Brain & Development, 2017. 39(7): p. 629–632. pmid:28351596
  241. 241. Greemberg R., Herzog R., A call for an early clinical consideration for ataxia-telangiectasia in infants with low TREC and combined immunodeficiency. Journal of Allergy and Clinical Immunology, 2016. Conference: p. 2016 Annual Meeting of the American Academy of Allergy, Asthma and Immunology, AAAAI 2016. Los Angeles, CA United States. Conference Publication: (var.pagings). 137 (2 SUPPL. 1) (pp AB216).
  242. 242. Sourander P., Bonnevier J. O., Olsson Y., A case of ataxia-telangiectasia with lesions in the spinal cord. Acta Neurologica Scandinavica, 1966. 42(3): p. 354–66. pmid:5935908
  243. 243. Monafo V., Fierro C., Fiocchi S., Maghnie M., Case Report: Ataxia telangiectasia with hyper IgM (ATM) with a complicated clinical course and a hepatic malignancy. Molecular Immunology, 1998. 35(11–12): p. 736–736.
  244. 244. Patino-Nino J.A., Pachajoa H., Perez P., Olaya M., Medina D., Case Report: Novel Mutations Detected in ATM Gene in a 10 Years Old Girl with Ataxia Telangiectasia in Colombia. Journal of Clinical Immunology, 2015. 35: p. S29–S30.
  245. 245. Lohmann E., Krüger S., Hauser A. K., Hanagasi H., Guven G., Erginel-Unaltuna N., et al., Clinical variability in ataxia–telangiectasia. Journal of Neurology, 2015. 262(7): p. 1724–1727. pmid:25957637
  246. 246. Ram G., Heimall J., Cutaneous granulomas presenting as primary immune deficiency. Annals of Allergy, Asthma and Immunology, 2013. Conference: p. 2013 Annual Meeting of the American College of Allergy, Asthma and Immunology. Baltimore, MD United States. Conference Publication: (var.pagings). 111 (5 SUPPL. 1) (pp A95).
  247. 247. Folgori L., Scarselli A., Angelino G., Ferrari F., Antoccia A., Chessa L., et al., Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report. Italian Journal of Pediatrics, 2010. 36: p. 29. pmid:20380744
  248. 248. Renedo M., Robledo M., Arranz E., Infantes F., Roman A., Garcia-Yebenes J., et al., Cytogenetic and molecular studies of siblings with ataxia telangiectasia followed for 7 years. Cancer Genetics & Cytogenetics, 1997. 95(2): p. 178–82. pmid:9169038
  249. 249. Soresina A., Meini A., Lougaris V., Cattaneo G., Pellegrino S., Piane M., et al., Different clinical and immunological presentation of ataxia-telangiectasia within the same family. Neuropediatrics, 2008. 39(1): p. 43–5. pmid:18504682
  250. 250. van Belzen M.J., Hiel J. A., Weemaes C. M., Gabreels F. J., van Engelen B. G., Smeets D. F., et al., A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia. Human Genetics, 1998. 102(2): p. 187–91. pmid:9521587
  251. 251. Goyal V., Behari M., Dystonia as presenting manifestation of ataxia telangiectasia: a case report. Neurology India, 2002. 50(2): p. 187–9. pmid:12134185
  252. 252. Pritchard J., Sandland M. R., Breatnach F. B., Pincott J. R., Cox R., Husband P., The effects of radiation therapy for Hodgkin’s disease in a child with ataxia telangiectasia: a clinical, biological and pathologic study. Cancer, 1982. 50(5): p. 877–86. pmid:7093926
  253. 253. Woods C.G., Bundey S., Taylor A. M. R., A Genetic-Study of Classical Ataxia Telangiectasia. Journal of Medical Genetics, 1990. 27(10): p. 645–646.
  254. 254. Terplan K.L., Krauss R. F., Histopathologic brain changes in association with ataxia-telangiectasia. Neurology, 1969. 19(5): p. 446–54. pmid:5815218
  255. 255. Yalcin B., Kutluk M. T., Sanal O., Akyuz C., Anadol D., Caglar M., et al., Hodgkin’s disease and ataxia telangiectasia with pulmonary cavities. Pediatric Pulmonology, 2002. 33(5): p. 399–403. pmid:11948987
  256. 256. An S.H., Li J. Y., Gao W. J., Zhang Y. L., Mo G. L., Tian L. Y., et al., A homozygous nonsense mutation of ATM gene in a Chinese family with five ataxia telangiectasia children: lesson for prenatal diagnosis. International Journal of Clinical and Experimental Pathology, 2016. 9(7): p. 7686–7690.
  257. 257. Huh H.J., Cho K. H., Lee J. E., Kwon M. J., Ki C. S., Lee P. H., Identification of ATM mutations in Korean siblings with ataxia-telangiectasia. Annals of Laboratory Medicine, 2013. 33(3): p. 217–20. pmid:23667852
  258. 258. Lahat N., Zelnik N., Froom P., Kinarty A., Etzioni A., Impaired autologous mixed lymphocyte reaction (AMLR) in patients with ataxia-telangiectasia and their family members. Clinical & Experimental Immunology, 1988. 74(1): p. 32–5. pmid:2851398
  259. 259. Tangsinmankong N., Wayne A. S., Howenstine M. S., Washington K. R., Langston C., Gatti R. A., et al., Lymphocytic interstitial pneumonitis, elevated IgM concentration, and hepatosplenomegaly in ataxia-telangiectasia. Journal of Pediatrics, 2001. 138(6): p. 939–41.
  260. 260. Cantarutti N., Claps A., Angelino G., Chessa L., Callea F., El Hachem M., et al., Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. Italian Journal of Pediatrics, 2015. 41: p. 23. pmid:25881033
  261. 261. Termsarasab P., Yang A. C., Frucht S. J., Myoclonus in ataxia-telangiectasia. Tremor and Other Hyperkinetic Movements, 2015(pagination). pmid:25793145
  262. 262. Leuzzi V., Elli R., Antonelli A., Chessa L., Cardona F., Marcucci L., et al., Neurological and cytogenetic study in early-onset ataxia-telangiectasia patients. European Journal of Pediatrics, 1993. 152(7): p. 609–12. pmid:7689057
  263. 263. Ruiz-Botero F., Rodriguez-Guerrero J. T., [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case]. Revista Chilena de Pediatria, 2017. 88(4): p. 524–528. pmid:28898322
  264. 264. Mallott J., Kwan A., Church J., Gonzalez-Espinosa D., Lorey F., Tang L. F., et al., Newborn screening for SCID identifies patients with ataxia telangiectasia. Journal of Clinical Immunology, 2013. 33(3): p. 540–9. pmid:23264026
  265. 265. Liu X.L., Wang T., Huang X. J., Zhou H. Y., Luan X. H., Shen J. Y., et al., Novel ATM mutations with ataxia-telangiectasia. Neuroscience Letters, 2016. 611: p. 112–5. pmid:26628246
  266. 266. Chen W.L., SD; Hu HF; Chen G; Zhu SC; Jia B; Sheng W; et al., Novel homozygous ataxia-telangiectasia (A-T) mutated gene mutation identified in a Chinese pedigree with A-T. Molecular Medicine Reports 2019.
  267. 267. Garcia-Perez M.A., et al., Novel mutations and defective protein kinase C activation of T-lymphocytes in ataxia telangiectasia. Clinical & Experimental Immunology, 2001. 123(3): p. 472–80. pmid:11298136
  268. 268. Jacobs M., et al., The Objective Assessment of Abnormal Eye-Movements in Infants and Young-Children. Australian and New Zealand Journal of Ophthalmology, 1992. 20(3): p. 185–195. pmid:1449770
  269. 269. Nespoli L., Verri A., Taje S., Pellegrini F. P., Marinoni M., A precocious cerebellar ataxia and frequent fever episodes in a 16-month-old infant revealing ataxia-telangiectasia syndrome. Case Reports in Immunology, 2013(pagination).
  270. 270. Bakhtiar S., et al., Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia. Front Immunol, 2018. 9: p. 2495. pmid:30420857
  271. 271. Cunlift P.N., Mann J. R., Cameron A. H., Roberts K. D., Ward H. N., Radiosensitivity in ataxia-telangiectasia. British Journal of Radiology, 1975. 48(569): p. 374–6. pmid:1139093
  272. 272. Ashari N.S.M., Hamid W. Z. W. A., A rare case of ataxia telangiectasia in Malaysia. Bangladesh Journal of Medical Science, 2017. 16(1): p. 154–156.
  273. 273. Ray S., Sidhu R. J. S., Yadav R., Srinivas D., Pal P. K., Refractory status dystonicus in ataxia telangiectasia. Neurology India, 2017. 65(1): p. 169–172. pmid:28084263
  274. 274. Jain D., Natarajan S., Segmental pigmentary anomaly and ataxia telangiectasia. British Journal of Dermatology, 2015. Conference: p. 95th Annual Meeting of the British Association of Dermatologists. Manchester United Kingdom. Conference Publication: (var.pagings). 173 (SUPPL. 1) (pp 167).
  275. 275. Oxford J.M., Harnden D. G., Parrington J. M., Delhanty J. D. A., Specific Chromosome-Aberrations in Ataxia Telangiectasia. Journal of Medical Genetics, 1975. 12(3): p. 251–262. pmid:1177276
  276. 276. Watanabe A., Hanazono H., Sogawa H., Takaya H., Stomach cancer of a 14-year-old boy with ataxia-telangiectasia. Tohoku Journal of Experimental Medicine, 1977. 121(2): p. 127–31. pmid:191957
  277. 277. Janic D., Dokmanovic L., Jovanovic N., Lazic J., T-cell acute lymphoblastic leukemia in a child with ataxia-telangiectasia: case report. Journal of Pediatric Hematology/Oncology, 2007. 29(10): p. 713–5. pmid:17921854
  278. 278. Nowak-Wegrzyn A., Crawford T. O., Winkelstein J. A., Carson K. A., Lederman H. M., Immunodeficiency and infections in ataxia-telangiectasia. Journal of Pediatrics, 2004. 144(4): p. 505–11. pmid:15069401
  279. 279. McReynolds E.W., Dabbous M. K., Hanissian A. S., Duenas D., Kimbrell R., Abnormal collagen in ataxia telangiectasia. American Journal of Diseases of Children, 1976. 130(3): p. 305–7. pmid:1258840
  280. 280. Lampert F., [Acute lymphoblastic leukemia in sibblings with progressive cerebellar ataxia (Louis-Bar syndrome)]. Deutsche Medizinische Wochenschrift, 1969. 94(5): p. 217–20.
  281. 281. Cohen M.C., Sanchez-Marull R, Drut R, Aneuploid nucleomegaly of bronchial cells in ataxia-telangiectasia: cytologic recognition in bronchial brushings. Diagnostic Cytopathology, 1997. 17(6): p. 484–6. pmid:9407214
  282. 282. Gershanik J.J., James V., Ataxia telangiectasia and growth failure. American Journal of Diseases of Children, 1971. 122(6): p. 538–40. pmid:5156263
  283. 283. Hosal A.S., Yilmaz T., Ogretmenoglu O., Soylemezoglu F., Ataxia telangiectasia and mucoepidermoid carcinoma of the parotid gland: a case report. International Journal of Pediatric Otorhinolaryngology, 1996. 37(1): p. 79–84. pmid:8884410
  284. 284. Fireman P., Boesman M., and Gitlin D., Ataxia Telangiectasis. A Dysgammaglobulinaemia with Deficient Gamma-1-a (Beta-2-a)-Globulin. Lancet, 1964. 1(7344): p. 1193–5. pmid:14132658
  285. 285. Ogawa T., Ataxia Telangiectasia in 2 Slibs—with an Immunological Study of Patients and Their Family. Developmental Medicine and Child Neurology, 1966. 8(5): p. 616–&.
  286. 286. Meshram C.M., Sawhney I. M., Prabhakar S., Chopra J. S, Ataxia telangiectasia in identical twins: unusual features. Journal of Neurology, 1986. 233(5): p. 304–5. pmid:3772410
  287. 287. Woods C.G., Taylor A. M. R., Ataxia telangiectasis in the British Isles: The clinical and laboratory features of 70 affected individuals. Quarterly Journal of Medicine, 1992. 82(298): p. 169–179. pmid:1377828
  288. 288. Shuster J., Hart Z., Stimson C. W., Brough A. J., Poulik M. D., Ataxia telangiectasia with cerebellar tumor. Pediatrics, 1966. 37(5): p. 776–86. pmid:5326774
  289. 289. Zeft A., Jackson W. D., Daftary A., Lederman H., Bohnsack J, Ataxia Telangiectasia With Hyper IgM Immunophenotype, Chronic Hepatosplenomegaly, Lymphocytic Pneumonitis, and Enteropathy. Clinical Immunology, 2010. 135(2): p. 330–330.
  290. 290. Opeskin K., Waterston J., Nirenberg A., Hare W. S. C., Ataxia telangiectasia with long survival. Journal of Clinical Neuroscience, 1998. 5(4): p. 471–473. pmid:18639085
  291. 291. Gutmann L., Lemli L., Ataxia-telangiectasia associated with hypogammaglobulinemia. Archives of Neurology, 1963. 8: p. 318–27. pmid:13951457
  292. 292. Penchaszadeh V.B., Ataxia-telangiectasia in brother and sister. Birth Defects: Original Article Series, 1971. 7(8): p. 324–5. pmid:5173302
  293. 293. Smith L.L. and Conerly S.L., Ataxia-telangiectasia or Louis-Bar syndrome. Journal of the American Academy of Dermatology, 1985. 12(4): p. 681–96. pmid:2580869
  294. 294. Noordzij J.G., Wulffraat N. M., Haraldsson A., Meyts I., van’t Veer L. J., Hogervorst F. B., et al., Ataxia-telangiectasia patients presenting with hyper-IgM syndrome. Archives of Disease in Childhood, 2009. 94(6): p. 448–9. pmid:19224889
  295. 295. Kumar L., Sehgal S., Ataxia-telangiectasia syndrome in 2 siblings. Indian Journal of Medical Research, 1975. 63(10): p. 1459–63. pmid:1222959
  296. 296. Haerer A.F., Jackson J. F., Evers C. G., Ataxia-telangiectasia with gastric adenocarcinoma. JAMA, 1969. 210(10): p. 1884–7. pmid:4311128
  297. 297. Brito J.C., da Silva J. A., da Nobrega P. V., [Ataxia-telangiectasia. Report of 4 cases]. Arquivos de Neuro-Psiquiatria, 1979. 37(2): p. 158–64. pmid:496704
  298. 298. Ozonoff M.B., Ataxia-telangiectasia: chronic pneumonia, sinusitis, and adenoidal hypoplasia. American Journal of Roentgenology, Radium Therapy & Nuclear Medicine, 1974. 120(2): p. 297–9.
  299. 299. Farina L., Uggetti C., Ottolini A., Martelli A., Bergamaschi R., Sibilla L., et al., Ataxia-telangiectasia: MR and CT findings. Journal of Computer Assisted Tomography, 1994. 18(5): p. 724–7. pmid:8089319
  300. 300. Curry C.J.R., Tsai J., Hutchison H. T., Painter R., Wara D., Gatti R., Atypical Ataxia Telangiectasia—an Expanding Spectrum of Disorders. Clinical Research, 1987. 35(1): p. A211–A211.
  301. 301. Levitt R., Pierre R. V., White W. L., Siekert R. G., Atypical lymphoid leukemia in ataxia telangiectasia. Blood, 1978. 52(5): p. 1003–11. pmid:698387
  302. 302. Ito M., Nakagawa A., Hirabayashi N., Asai J., Bronchiolitis obliterans in ataxia-telangiectasia. Virchows Archiv, 1997. 430(2): p. 131–7. pmid:9083516
  303. 303. Olsen J.H., Hahnemann J. M., Borresen-Dale A. L., Brondum-Nielsen K., Hammarstrom L., Kleinerman R., et al., Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. Journal of the National Cancer Institute, 2001. 93(2): p. 121–7. pmid:11208881
  304. 304. Soukupova J., Pohlreich P., Seemanova E., Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. NeuroMolecular Medicine, 2011. 13(3): p. 204–11. pmid:21833744
  305. 305. Scheres J.M., Hustinx T. W., Weemaes C. M., Chromosome 7 in ataxia-telangiectasia. Journal of Pediatrics, 1980. 97(3): p. 440–1. pmid:7411307
  306. 306. Hatcher N.H., Pollara B., Hook E. B., Chromosome Breakage in 2 Siblings with Ataxia-Telangiectasia—Search for Intrafamilial Similarities. American Journal of Human Genetics, 1974. 26(6): p. A39–A39.
  307. 307. Zheng L., Liu X. L., Cao L., Clinical phenotype and genetic characteristics of ataxia-telangiectasia: four cases report. Chinese Journal of Contemporary Neurology and Neurosurgery, 2017. 17(7): p. 519–525.
  308. 308. Sherrington P.D., Fisch P., Taylor A. M. R., Rabbitts T. H., Clonal Evolution of Malignant and Nonmalignant T-Cells Carrying T(1414) and T(X14) in Patients with Ataxia-Telangiectasia. Oncogene, 1994. 9(8): p. 2377–2381.
  309. 309. Cohen L.E., Tanner D. J., Schaefer H. G., Levis W. R., Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. Journal of the American Academy of Dermatology, 1984. 10(3): p. 431–8. pmid:6725655
  310. 310. Mostofsky S.H., Green J. T., Meginley M., Christensen J. R., Woodruff-Pak, D. S., Conditioning in identical twins with ataxia-telangiectasia. Neurocase, 1999. 5(5): p. 425–433.
  311. 311. Petkovic I., Ligutic I., Dominis M., Loffler-Badzak D., M. Cepulic, Nakic M., Cytogenetic analysis in ataxia telangiectasia with malignant lymphoma. Cancer Genetics & Cytogenetics, 1992. 60(2): p. 158–63. pmid:1606559
  312. 312. Alsaadi , Paluke M., Kumar K., Cytogenetic and Immunological Studies in Ataxia Telangiectasia. American Journal of Human Genetics, 1975. 27(6): p. A78–A78.
  313. 313. Waghray , Gascon G. G., Alsedairy S., Hannan M. A., Cytogenetic Investigations in 3 Cell-Types of a Saudi Family with Ataxia Telangiectasia. Human Genetics, 1991. 87(3): p. 285–289. pmid:1864602
  314. 314. Cabana M.D., Winkelstein J. A., Christensen J. R., Lederman H. M., Crawford T. O., Delayed diagnosis of ataxia-telangiectasia. Annals of Neurology, 1997. 42(3): p. P42–P42.
  315. 315. Greenberger S., Berkun Y., Ben-Zeev B., Levi Y. B., Barziliai A., Nissenkorn A., Dermatologic manifestations of ataxia-telangiectasia syndrome. Journal of the American Academy of Dermatology, 2013. 68(6): p. 932–6. pmid:23360865
  316. 316. Jason J.M. and Gelfand E.W., Diagnostic considerations in ataxia-telangiectasia. Archives of Disease in Childhood, 1979. 54(9): p. 682–6. pmid:92914
  317. 317. Neves Forte W.C., Santos De Menezes M. C., Loureiro Dionigi P. C., Fanuchi E. Bastos C. L. A., Different clinical and laboratory evolutions in ataxia-telangiectasia syndrome: Report of four cases. Allergologia et Immunopathologia, 2005. 33(4): p. 199–203.
  318. 318. Tamai I., Okuyama M., Aoki T., Ochiai Y., [Disorders of lymphocyte maturation, helper T cells and anti T cell antibody in sisters with ataxia telangiectasia]. No to Hattatsu [Brain & Development], 1986. 18(3): p. 193–8. pmid:3707766
  319. 319. Ben-Zvi A., Soffer D., Yatziv S., Disseminated Herpes simplex virus infection in ataxia-telangiectasia. Acta Paediatrica Scandinavica, 1978. 67(5): p. 667–70. pmid:696312
  320. 320. Vilmer E., Lenoir G. M., Virelizier J. L., Griscelli C., Epstein-Barr serology in immunodeficiencies: an attempt to correlate with immune abnormalities in Wiskott-Aldrich and Chediak-Higashi syndromes and ataxia telangiectasia. Clinical & Experimental Immunology, 1984. 55(2): p. 249–56. pmid:6321070
  321. 321. Joncas J.H., Wills A., Reece E., Fox Z., Epstein-Barr virus antibodies in patients with ataxia-telangiectasia and other immunodeficiency diseases. Canadian Medical Association Journal, 1981. 125(8): p. 845–9. pmid:6272957
  322. 322. Pereira C.T.M., Carvalho B. C., Bichuetti-Silva D. C., Brunialti M. K. C., Ferreira N., Salomao R., Expression of CD40, CD40L and IgM production in patients with ataxiatelangiectasia. World Allergy Organization Journal, 2015. Conference: p. 3rd WAO International Scientific Conference, WISC 2014. Rio de Janeiro Brazil. Conference Publication: (var.pagings). 8 (SUPPL. 1) (no pagination).
  323. 323. Bar R.S., Levis W., Muggeo M., Roth J., Rechler M. M., Podskalny J. M., Extreme Insulin Resistance in Ataxia Telangiectasia—Defect in Affinity of Insulin Receptors. Clinical Research, 1977. 25(3): p. A290–A290.
  324. 324. Hyams S.W., Reisner S. H., Neumann E., The eye signs in ataxia-telangiectasia. American Journal of Ophthalmology, 1966. 62(6): p. 1118–24. pmid:5957886
  325. 325. Pickup J.D., Pugh R. J., Familial Ataxia-Telangiectasia. Archives of Disease in Childhood, 1961. 36(187): p. 344–&. pmid:21032386
  326. 326. Degan P., et al., Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress. Clinical Biochemistry, 2007. 40(9–10): p. 666–70. pmid:17466964
  327. 327. Browne R., Ravenscroft J. C., McDermott E. M., Cliffe L., Glover M., Suri M., Granulomatous skin disease in ataxia-telangiectasia. British Journal of Dermatology, 2018. Conference: p. 32nd Annual Meeting of the British Society for Paediatric Dermatology. United Kingdom. 178 (2) (pp e149–e150).
  328. 328. Serizawa M., Sakamoto M., Hirabayashi K., Fujiwara Y., Atsumi T., [Histological and radiobiological study on adult cases with ataxia telangiectasia]. Rinsho Shinkeigaku—Clinical Neurology, 1994. 34(1): p. 38–42. pmid:7512454
  329. 329. Wells J.V., Bleumers J.F., and Fudenberg H.H., Human anti-IgM iso-antibodies in subjects with selective IgA deficiency. Clinical & Experimental Immunology, 1972. 12(3): p. 305–13. pmid:4629949
  330. 330. Datta U., Sehgal S., Kumar L., Kaur K. J., Walia B. N., Chopra J. S., et al., Immune status in ataxia telangiectasia. Indian Journal of Medical Research, 1991. 94: p. 252–4. pmid:1937611
  331. 331. Hanicki Z., Hanicka M., and Rembiesowa H., Immunologic aspects of ataxia-telangiectasia. International Archives of Allergy & Applied Immunology, 1967. 32(5): p. 436–52. pmid:4169960
  332. 332. Eisen A.H., Karpati G., Laszlo T., Andermann F., Robb J. P., Bacal H. L., Immunologic Deficiency in Ataxia Telangiectasia. New England Journal of Medicine, 1965. 272: p. 18–22.
  333. 333. Epstein W.L., Fudenberg H. H., Reed W. B., Boder E., Sedgwick R. P., Immunologic studies in ataxia-telangiectasia. I. Delayed hypersensitivity and serum immune globulin levels in probands and first-degree relatives. International Archives of Allergy & Applied Immunology, 1966. 30(1): p. 15–29. pmid:4161835
  334. 334. Schultewissermann H., Gutjahr P., Zebisch P., Reitz M., Lemmel E. M., Immunological Investigations in 2 Brothers with Ataxia Telangiectasia Louis-Bar. European Journal of Pediatrics, 1976. 122(2): p. 93–102. pmid:1083805
  335. 335. Hansen R.L., Marx J. J., Ptacek L. J., Roberts R. C., Immunological studies on an aberrant form of ataxia telangiectasia. American Journal of Diseases of Children, 1977. 131(5): p. 518–21. pmid:857652
  336. 336. Bordigoni P., Faure G., Bene M. C., Dardenne M., Bach J. F., Duheille J., et al., Improvement of cellular immunity and IgA production in immunodeficient children after treatment with synthetic serum thymic factor (FTS). Lancet, 1982. 2(8293): p. 293–7. pmid:6124716
  337. 337. Suarez F., Mahlaoui N., Canioni D., Andriamanga C., Dubois d’Enghien C., Brousse N., et al., Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. Journal of Clinical Oncology, 2015. 33(2): p. 202–8. pmid:25488969
  338. 338. Hiel J.A., Weemaes C. M., Smeets D. F., Van de Vlasakker C. J., Horstink M. W., Late-onset ataxia telangiectasia in two brothers presenting with juvenile resting tremor. Movement Disorders, 1994. 9(4): p. 460–2. pmid:7526160
  339. 339. Hecht F., Koler R. D., Rigas D. A., Dahnke G. S., Case M. P., Tisdale V., et al., Leukaemia and Lymphocytes in Ataxia-Telangiectasia. Lancet, 1966. 2(7474): p. 1193–&.
  340. 340. Ammann A.J., Good R. A., Bier D., Fudenberg H. H., Long-term plasma infusions in a patient with ataxia-telangiectasia and deficient IGA and IGE. Pediatrics, 1969. 44(5): p. 672–6. pmid:4192681
  341. 341. Peterson R.D., Cooper M. D., Good R. A., Lymphoid tissue abnormalities associated with ataxia-telangiectasia. American Journal of Medicine, 1966. 41(3): p. 342–59. pmid:5914110
  342. 342. Cirillo E., Del Giudice E., Micheli R., Cappellari A. M., Soresina A., Dellepiane R. M., et al., Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. European Journal of Neurology, 2018. 25(6): p. 833–840. pmid:29489040
  343. 343. Salman M.S., Chodirker B. N., Neuro-ophthalmological findings in children and adolescents with chronic ataxia. Neuro Ophthalmology, 2015. 39(3): p. 125–131. pmid:27928345
  344. 344. Schmidt D., [Oculomotor signs in cerebellar disease shown in ataxia telangiectasia (Louis Bar) (author’s transl)]. Klinische Monatsblatter fur Augenheilkunde, 1978. 173(3): p. 329–33. pmid:108455
  345. 345. Strich S.J., Pathological Findings in 3 Cases of Ataxia-Telangiectasia. Journal of Neurology Neurosurgery and Psychiatry, 1966. 29(6): p. 489–&.
  346. 346. Morio T., Takahashi N., Watanabe F., Honda F., Sato M., Takagi M., et al., Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan. International Journal of Hematology, 2009. 90(4): p. 455–462. pmid:19705055
  347. 347. Kovacs K., Giannini C., Scheithauer B. W., Stefaneanu L., Lloyd R. V., Horvath E., Pituitary changes in ataxia-telangiectasia syndrome: An immunocytochemical, in situ hybridization, and DNA cytometric study of three cases. Endocrine Pathology, 1997. 8(3): p. 195–203. pmid:12114723
  348. 348. Hellani A., et al., Pregnancy after preimplantation genetic diagnosis for Ataxia Telangiectasia. Molecular Human Reproduction, 2002. 8(8): p. 785–8. pmid:12149412
  349. 349. Devaney R., Pasalodos S., Suri M., Bush A., Bhatt J., Presentation and diagnostic delay in ataxia telangiectasia (A-T). European Respiratory Journal, 2015. Conference: p. European Respiratory Society Annual Congress 2015. Amsterdam Netherlands. Conference Publication: (var.pagings). 46 (SUPPL. 59) (no pagination).
  350. 350. Bodensteiner J.B., Goldblum R. M., Goldman A. S., Progressive dystonia masking ataxia in ataxia-telangiectasia. Archives of Neurology, 1980. 37(7): p. 464–5. pmid:7387499
  351. 351. Hernanz-Hermosa J.M., Bueno-Marco C., Gonzalez-Herrada C., Casanova-Seuma J. M., Martin-Moro M., Villanueva-Osorio J., [Prolonged and severe photodermatitis, an early manifestation of ataxia telangiectasia]. Medicina Cutanea Ibero-Latino-Americana, 1987. 15(2): p. 119–22. pmid:3309497
  352. 352. Levine C., Vrlenich L., Renal lymphoma in ataxia-telangiectasia: CT contribution. Journal of Computer Assisted Tomography, 1989. 13(3): p. 537–9. pmid:2723195
  353. 353. Aucouturier P., Bremard-Oury C., Griscelli C., Berthier M., Preud’homme J. L., Serum IgG subclass deficiency in ataxia-telangiectasia. Clinical & Experimental Immunology, 1987. 68(2): p. 392–6. pmid:3652519
  354. 354. Chen R.L., Wang P. J., Hsu Y. H., Chang P. Y., Fang J. S., Severe lung fibrosis after chemotherapy in a child with ataxia-telangiectasia. Journal of Pediatric Hematology/Oncology, 2002. 24(1): p. 77–9. pmid:11902749
  355. 355. Verma S., Sharma P. K., Sivanandan S., Rana N., Saini S., Lodha R., et al., Spectrum of primary immune deficiency at a tertiary care hospital. Indian Journal of Pediatrics, 2008. 75(2): p. 143–8. pmid:18334795
  356. 356. Uygungil B., Lederman H., A successful pregnancy and delivery in a patient with ataxia-telangiectasia. Journal of Clinical Immunology, 2013. Conference: p. 2013 Clinical Immunology Society, CIS Annual Meeting: Regulation and Dysregulation of Immunity. Miami, FL United States. Conference Publication: (var.pagings). 33 (3) (pp 688).
  357. 357. Bichuetti-Silva D.C., et al., Transitional B cells and CD21low in patients with ataxia-telangiectasia. World Allergy Organization Journal, 2015. Conference: p. 3rd WAO International Scientific Conference, WISC 2014. Rio de Janeiro Brazil. Conference Publication: (var.pagings). 8 (SUPPL. 1) (no pagination).
  358. 358. Cousineau A.J., Higgins J. V., Kaufman D., Unique Karyotypic Patterns in 3 Sibs with Ataxia Telangiectasia. American Journal of Human Genetics, 1981. 33(6): p. A101–A101.
  359. 359. Ours C., Cunningham A., Afify Z., Unique presentations of ataxia-telangiectasia in two brothers. Pediatric Blood and Cancer, 2018. Conference: p. 2018 American Society of Pediatric Hematology/Oncology, ASPHO 2018. United States. 65 (Supplement 1) (pp S21).