TABLE 1.
Clinical characteristics of patients harbouring CSF2RA mutations
| Characteristics | |
| Female | 18/24 (75) |
| Consanguinity | 15/19# (79) |
| Age at onset years | 3 (0.2–19) |
| Age at diagnosis years | 5 (2.3–19) |
| Diagnostic latency years | 1 (0–5.8) |
| Signs at diagnosis | |
| Dyspnoea/tachypnoea | 17/24 (71) |
| Hypoxaemia | 13/24 (54) |
| Failure to thrive | 15/24 (63) |
| Asymptomatic (familial screening) | 5/24 (21) |
| Outcome | |
| Length of follow-up | 2.5 (0–12.5) |
| Age at last follow-up years | 11 (4.2–19) |
| Death | 1/24 (4) |
| Alive and asymptomatic | 11/24 (46) |
| Alive and symptomatic without O2 | 7/24 (29) |
| Alive and CRF | 5/24 (21) |
| Management | |
| WLL | 17/24 (72) |
| BMT | 2/23 (8.7) |
Data are presented as n/N (%) or median (min–max). CRF: chronic respiratory failure; WLL: whole-lung lavage; BMT: bone marrow transplantation. #: information missing for five patients. Data from [19–24].