Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

Geeta Madathil Govindaraj; Abhinav Jain; Geetha Peethambaran; Rahul C. Bhoyar; Shamsudheen Karuthedath Vellarikkal; Arvind Ganapati; Pulukool Sandhya; Athulya Edavazhippurath; Dhananjayan Dhanasooraj; Jayakrishnan Machinary Puthenpurayil; Krishnan Chakkiyar; Anushree Mishra; Arushi Batra; Anu Punnen; Sathish Kumar; Sridhar Sivasubbu; Vinod Scaria

doi:10.1371/journal.pone.0237999

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Peer-reviewed

Research Article

Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

Geeta Madathil Govindaraj ,

Contributed equally to this work with: Geeta Madathil Govindaraj, Abhinav Jain

Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Resources, Supervision, Writing – original draft, Writing – review & editing

* E-mail: vinods@igib.in (VS); geetakkumar@gmail.com (GMG)

Affiliations Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, India, Department of Pediatrics, FPID Regional Diagnostic Centre, Government Medical College Kozhikode, Kozhikode, India
⨯
Abhinav Jain ,

Contributed equally to this work with: Geeta Madathil Govindaraj, Abhinav Jain

Roles Data curation, Formal analysis, Investigation, Methodology, Validation, Visualization, Writing – original draft, Writing – review & editing

Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), New Delhi, Delhi, India
⨯
Geetha Peethambaran,

Roles Data curation, Investigation, Methodology

Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, India
⨯
Rahul C. Bhoyar,

Roles Formal analysis

Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India
⨯
Shamsudheen Karuthedath Vellarikkal,

Roles Formal analysis, Investigation, Methodology

Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India
⨯
Arvind Ganapati,

Roles Formal analysis

Affiliation Department of Rheumatology, Christian Medical College, Vellore, India
⨯
Pulukool Sandhya,

Roles Data curation, Formal analysis, Investigation, Supervision, Writing – original draft, Writing – review & editing

Current address: Department of Rheumatology, St. Stephen’s Hospital, Delhi, India

Affiliation Department of Rheumatology, Christian Medical College, Vellore, India
⨯
Athulya Edavazhippurath,

Roles Data curation, Formal analysis, Investigation

Affiliations Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, India, Multidisciplinary Research Unit, Government College Kozhikode, Kozhikode, India
⨯
Dhananjayan Dhanasooraj,

Roles Data curation, Formal analysis, Investigation

Affiliation Multidisciplinary Research Unit, Government College Kozhikode, Kozhikode, India
⨯
Jayakrishnan Machinary Puthenpurayil,

Roles Data curation, Formal analysis, Investigation

Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, India
⨯
Krishnan Chakkiyar,

Roles Formal analysis, Investigation

Affiliation Department of Pediatrics, Government Medical College Kozhikode, Kozhikode, India
⨯
Anushree Mishra,

Roles Data curation, Formal analysis

Affiliation CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India
⨯
Arushi Batra,

Roles Formal analysis

Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), New Delhi, Delhi, India
⨯
Anu Punnen,

Roles Formal analysis

Affiliation Department of Pediatrics, Christian Medical College, Vellore, India
⨯
Sathish Kumar,

Roles Formal analysis

Affiliation Department of Pediatrics, Christian Medical College, Vellore, India
⨯
Sridhar Sivasubbu,

Roles Conceptualization, Funding acquisition, Methodology, Resources, Supervision, Writing – review & editing

Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), New Delhi, Delhi, India
⨯
[ ... ],
Vinod Scaria

Roles Conceptualization, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

* E-mail: vinods@igib.in (VS); geetakkumar@gmail.com (GMG)

Affiliations CSIR-Institute of Genomics and Integrative Biology, New Delhi, Delhi, India, Academy of Scientific and Innovative Research (AcSIR), New Delhi, Delhi, India

http://orcid.org/0000-0001-7644-7181

⨯
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Spectrum of clinical features and genetic variants in mevalonate kinase (MVK) gene of South Indian families suffering from Hyperimmunoglobulin D Syndrome

Geeta Madathil Govindaraj,
Abhinav Jain,
Geetha Peethambaran,
Rahul C. Bhoyar,
Shamsudheen Karuthedath Vellarikkal,
Arvind Ganapati,
Pulukool Sandhya,
Athulya Edavazhippurath,
Dhananjayan Dhanasooraj,
Jayakrishnan Machinary Puthenpurayil

Published: August 21, 2020
https://doi.org/10.1371/journal.pone.0237999

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