Table 1.
Clinical, demographic and genetic characteristics of PMM2-CDG patients.
Table 2.
Basal numbers of peripheral blood T and NK cells at the time of sample reception.
Fig 1.
(A-E) Expression of surface receptors on activated NK and T cells from PMM2-CDG patients and control subjects. (B, C) CD54 (ICAM-1), (D) NKG2D and (E) NKp46 expression. The study was done by flow cytometry. Values are expressed as % MFI vs that observed in control subjects.
Fig 2.
(A) Percentages of expanded NK (CD3-) and T (CD3+) cells, indicated as percentages of CD16+, CD56+, CD54+ and siglec-7+ subpopulations. (B) Percentages of other expanded lymphoid subpopulations. The study was done by flow cytometry. Values are expressed as % cells ± SD. The amount of 2B4+ cells was significantly lower (p = 0.016) in expanded activated patient lymphocytes.
Fig 3.
Level of CD54 expression on different blood lymphocyte subpopulations and monocytes in PMM2-CDG patients and control subjects.
The study was done by flow cytometry. Values are expressed as % MFI vs that observed in controls. CD54 expression was found significantly lower (p = 0.021) in patient B lymphocytes.
Fig 4.
Reactivity of NK cell against K562 target cells.
(A) Percentage of degranulated NK cells at 1:1 E/T ratio (see Materials and Methods section). (B) Máximal reactivity of NK cells calculated as the maximal number of degranulated CD107a+ NK cells (αmax). Values from all tested patients and control subjects are shown. Horizontal lines represent the mean value in each study group. (C) Percentage of degranulated NK cells at 1:1 E/T ratio of fresh and activated NK cells from patient P2 (light grey bars), P5 (white bars) and control subjects (dark bars). Standard deviation in control samples is shown.
Fig 5.
Correlation of CD54 (A) and NKG2D (B) expression on NK cells according to NK cell reactivity, at E/T 1:1 ratio, in PMM2-CDG patients and healthy subjects. Correlation of NKp46 (C) and 2B4 (D) expression with NKG2D expression. Values from all patients (light dots and dashed lines) tested and control subjects (dark dots and continues lines) are shown. Lines represent the linear tendency using control and patient values. R2 values from linear regression, Pearson correlation indexes and p values are shown in black letters for control values and in grey letters for patient´s values.
Fig 6.
T lymphocytes (A and B) and NK cell (C) kinetic profile during the first year of life in patient P2. Black arrows indicate the onset of adenoviral and rotavirus infection in this patient. Light grey horizontal lines represent normal range values.
Table 3.
Absolute and percentage cell counts of peripheral blood lymphocytes in patient P3.