TABLE II.
Summary of STAT1 GOF patients here and previously described cohorts
| Patient 1 | Patient 2 | Previously Described in STAT1 GOF cohorts | |
|---|---|---|---|
|
| |||
| Location of the variant | CCD | CCD | CCD (52.6%) (8) |
| Infections | |||
| CMC | no | no | yes (98% of patients) (6,8) |
| Bacterial | no | no | yes (74% of patients) (6) |
| Fungal (non-CMC) | yes | no | yes (10% of patients) (6) |
| Viral | no | yes | yes (38% of patients) (6) |
| Autoimmunity | |||
| Thyroid disease | no | no | yes (22% of patients) (6) |
| Diabetes | no | no | yes (4% of patients) (6) |
| Malignancy | no | no | yes (6% of patients) (6) |
| HLH | yes | no | yes (44) |
| Dysgammagloulinemia | no | no | high serum IgG (in 20%) or low (in 3% of the patients tested), impaired antigenspecific antibodies against tetanus, diphtheria toxoid, or poliovirus (23% of the patients) (8) |
| Immune phenotyping (relative frequencies) | |||
| CD8+ T cells | low | low | low in 16% of patients studied (6) |
| CD4+ T cells | low | low | low in 28% of patients studied (6) |
| CD4+ Tcm | high | high | high (47) |
| CD8+ Tcm | high | high | not described |
| CD4+ Tem | low | low | low (47) |
| CD8+ Tem | low | low | high (47) |
| Th17 subset | low | low | low in 82% of patients (8, 46) |
| Th1 subset | “variable” | “variable” | high (8, 46) |
| Th2 subset | low | low | low (8, 46) |
| TfH | high | high | “normal” (8, 46) |
| CD19+ B cells | low in 19% of patients studied (6) | ||
| Class switch memory B cells | low | low | low in 49% of patients studied (6) |
| NK cell population (CD56br and CD56dim) | high CD56−, low CD56+ | low | low total NK in 25% of patients studied (6); low CD56dim |
| NK cell dysfunction | yes | yes | yes |
| CD4+, CD8+ Tcm and Tem Activation Markers | |||
| CD44, CD27, CD38 | high | high | not described |
| NK Acitvation Markers | |||
| CD127,CD95, HLA-DR | high | high | not described |
| Myeloid Acitvation Markers | |||
| S100A9, HLA-DR | high | high | not described |
| Metabolism | |||
| GLUT1 expression | high | high | not described |
| CPT1a expression | high | high | not described |
| Stimulation Assays | |||
| elevated pSTAT1 to IFN | no | yes | yes (8) |
| elevated pSTAT1 to IL-6 | no | yes | yes (7) |
Percentages (%) are listed only when the data has been aggregated in larger cohort studies of patients with STAT1 GOF mutations