Table 1 Clinical and laboratory features of the patient cohort according to genetic mutation
Gene | PTPN11 (N = 40) | SOS1 (N = 9) | RAF1 (N = 2) | BRAF (N = 8) | LZTR1 (N = 3) | RIT1 (N = 4) | KRAS (N = 1) | MAP2K2 (N = 1) | MEK1 (N = 1) |
|---|---|---|---|---|---|---|---|---|---|
Infection in regions including the middle ear and upper airway tract | 1 | 1 | – | – | – | – | – | – | – |
Pneumonia | 1 | – | – | – | – | – | – | – | – |
Decreased IgA | 4 | 1 | – | 2 | – | 1 | – | – | – |
Decreased IgG | 1 | 1 | – | 1 | – | – | – | – | – |
Decreased IgM | 1 | 1 | – | 1 | – | 1 | – | – | – |
< CD3 | 1 | – | – | – | – | – | – | – | – |
< CD8 | 2 | 2 | – | 1 | – | 1 | – | – | – |
Anti Tg | 1 | – | – | 1 | 1 | 1 | – | – | – |
Anti–TPO | 1 | – | – | 1 | 1 | – | – | – | – |
Anti R–TSH | 2 | – | – | – | – | – | – | – | – |
Anti–LKM1 | 1 | – | – | – | – | – | – | – | – |
ENA/Anti–dsDNA | – | – | – | – | – | – | – | – | – |
Autoimmune diseases | – | 1 Psoriasis | – | – | – | – | – | – | – |