Table 1.
Immunological investigations of patients with STAT1 GOF mutations
| Biological investigations | Patients tested (n) | Normal (%) | Low (%) | High (%) |
|---|---|---|---|---|
| Total lymphocyte rate | 232 | 81 | 19 | — |
| CD4+ T lymphocytes | 222 | 72 | 28 | — |
| CD8+ T lymphocytes | 222 | 83 | 16 | 1 |
| CD19+ or CD20+ B lymphocytes | 209 | 81 | 19 | — |
| CD27+CD19+ memory B lymphocytes | 53 | 51 | 49 | — |
| CD16+CD56+ NK cells | 158 | 73 | 25 | 2 |
| CD3+IL-17+ or CD4+IL-17+ T lymphocytes* | 49 | 18 | 82 | — |
| CD4+IFNγ+ T lymphocytes† | 13 | 69 | 31 | — |
| T-cell proliferation (mitogen and/or antigen) | 119 | 68 | 32 | — |
| PBMC IL-17 production (pg/mL)‡ | 10 | 60 | 40 | — |
| IgG levels (g/L) | 229 | 77 | 3 | 20§ |
| IgA levels (g/L) | 219 | 82 | 14 | 4 |
| IgM levels (g/L) | 221 | 100 | — | — |
| IgG1 levels (g/L) | 94 | 100 | — | — |
| IgG2 levels (g/L) | 94 | 62 | 38 | — |
| IgG4 levels (g/L) | 94 | 50 | 50 | — |
| IgE levels (kIU/L) | 125 | 97 | — | 3|| |
| Antibodies against protein antigens¶ | 111 | 77 | 23 | — |
PBMC, peripheral blood mononuclear cell.
*
CD3+IL17+ lymphocyte normal range (% of CD3+): 0.7-1.7; CD4+IL17+ lymphocyte normal range (% of CD4+): 6-22.60
†
CD4+IFNγ+ lymphocytes normal range (%): 6-18.60
‡
IL-17 (PBMC stimulated with Candida) normal range: 900-5000 pg/mL.60
§
IgG >15 g/dL.
||
IgE >140 kIU/L.
¶
Tetanus, diphtheria toxoid, or poliovirus.