Characteristics of ALPS-FAS patients (N = 150)
| Patients . | Male (n = 97) . | Female (n = 53) . | Total (n = 150) . |
|---|---|---|---|
| Probands n (%) | 52 (54%) | 26 (49%) | 78 (52%) |
| Relatives n (%) | 45 (46%) | 27 (51%) | 72 (48%) |
| Intracellular mutation, n (%) | 74 (76%) | 36 (68%) | 110 (73%) |
| Extracellular mutation, n (%) | 17 (18%) | 14 (26%) | 31 (21%) |
| Transmembrane mutation, n (%) | 6 (6%) | 3 (6%) | 9 (6%) |
| Severe disease subset | 35 (36%) | 21 (40%) | 56 (37%), 56 (37.33%) |
| Age of onset (years), median (Q1, Q3) | 2.8 (0.8, 5.1) | 2.2 (1.1, 6.7) | 2.7 (0.8, 5.5) |
| Age at first NIH visit, median (Q1, Q3) | 15.4 (9.2, 21.8) | 16.16 (7.9, 31.5) | 15.4 (8.5, 28.0) |
| Median years of follow-up (minimum, maximum) | 13.0 (1.3, 53.0) | 13.6 (3.0, 55.7) | 13.5 (1.3, 55.7) |
| Patients . | Male (n = 97) . | Female (n = 53) . | Total (n = 150) . |
|---|---|---|---|
| Probands n (%) | 52 (54%) | 26 (49%) | 78 (52%) |
| Relatives n (%) | 45 (46%) | 27 (51%) | 72 (48%) |
| Intracellular mutation, n (%) | 74 (76%) | 36 (68%) | 110 (73%) |
| Extracellular mutation, n (%) | 17 (18%) | 14 (26%) | 31 (21%) |
| Transmembrane mutation, n (%) | 6 (6%) | 3 (6%) | 9 (6%) |
| Severe disease subset | 35 (36%) | 21 (40%) | 56 (37%), 56 (37.33%) |
| Age of onset (years), median (Q1, Q3) | 2.8 (0.8, 5.1) | 2.2 (1.1, 6.7) | 2.7 (0.8, 5.5) |
| Age at first NIH visit, median (Q1, Q3) | 15.4 (9.2, 21.8) | 16.16 (7.9, 31.5) | 15.4 (8.5, 28.0) |
| Median years of follow-up (minimum, maximum) | 13.0 (1.3, 53.0) | 13.6 (3.0, 55.7) | 13.5 (1.3, 55.7) |
Q1 is the 25th percentile; Q3 is the 75th percentile.