Case Report
Gain-of-Function Mutations in STAT1: A Recently Defined Cause for Chronic Mucocutaneous Candidiasis Disease Mimicking Combined Immunodeficiencies
Table 1
Serum immunoglobulin, complement levels, lymphocyte subgroups as ratios, and absolute cell numbers with age-related reference values [
4–
6].
| | | Patient | Reference values (mean ± SD) | Min–max |
| | IgG (mg/dL) | 1320 | 822.3 ± 208.4 | 430–1290 | | IgA (mg/dL) | 98.9 | 53.5 ± 26.8 | 23–130 | | IgM (mg/dL) | 149 | 92.5 ± 33.9 | 36–199 | | IgE (IU/mL) | 0.9 | <100 | 2–199 | | C3 (mg/dL) | 171 | 120 ± 45 | 81–171 | | C4 (mg/dL) | 28.3 | 22 ± 13 | 9–36 | CD3+ T cells (%)
(cells/mm3) | 71
2620 | 70.0 ± 7.18
3220 ± 1180 | 48.2–81.4
506–7267 | CD19+ B cells (%)
(cells/mm3) | 23
849 | 16.5 ± 5.70
739 ± 329 | 6.7–30.4
242–1459 | CD3+CD4+ Th cells (%)
(cells/mm3) | 40
1476 | 40.3 ± 7.27
1314 ± 542 | 23.2–59.5
118–3245 | CD3+CD8+ Tc cells (%)
(cells/mm3) | 28
1033 | 24.2 ± 5.48
803 ± 417 | 15.2–39
108–2367 | CD3−CD1656+ NK cells (%)
(cells/mm3) | 5
185 | 11.2 ± 4.85
509 ± 295 | 3.4–26.4
143–1599 | CD3+HLA-DR+ active T cells (%)
(cells/mm3) | 18
664 | 7.84 ± 3.7
375 ± 235 | 2.1–16.2
22–954 |
|
|
