Table 1.
Demographic data of patients with STAT1 gain-of-function mutation.
| Parameter (no. of evaluated patients) | Results |
|---|---|
| Country of residence (%) (n = 371); NK (n = 71) | France (13.7), USA (12.9), Germany (9.7), Japan (8.4), UK (7.8), China (5.1), Netherlands (5.1), Mexico (3.5), Italy (2.7), Canada (2.4), Turkey (2.4), Belgium (2.2), Czech Republic (1.6), Norway (1.6), Switzerland (1.6), Argentina (1.3), Morocco (1.3), Chile (1.1), Hungary (1.1), Iran (1.1), Israel (1.1), Spain (1.1), and Other (11.1) |
| Ethnicity (%) (n = 42) | France (16.7), Germany (14.3), Japan (14.3), Saudi Arabia (12.0), Israel (9.5), Denmark (7.1), and other (28.6) |
| Sex ratio, M/F, n (%) (n = 433 and NK = 9) | 224 (51.7)/209 (48.3) |
| Consanguinity, n (%) (n = 310 and NK = 132) | 13 (4.2) |
| Familial case, n (%) (n = 374 and NK = 68) | 232 (62.0) |
| Alive/dead, n (%) (n = 442) | 383 (86.7)/59 (13.3) |
| Age (y) (n = 419 and NK = 23) | Min = 0.1, max = 85.0; median (IQR) = 18.0 (9.0–33.0) |
| Age at onset (y) (n = 96 and NK = 346) | Min = 0.0, max = 30.0; median (IQR) = 1.0 (0.5–5.5) |
| Age at diagnosis (y) (n = 15 and NK = 427) | Min = 1.0, max = 26.0; median (IQR) = 6.2 (3.5–13.5) |
| Delay in diagnosis (y) (n = 15 and NK = 427) | Min = 0.8, max = 25.0; median (IQR) = 5.7 (2.9–12.5) |
| Age at presentation of CMC (y) (n = 312 and NK = 130) | Min = 0.0, max = 50.0; median (IQR) = 1.0 (0.3–4.3) |
NK, Not known.