TABLE 1

Clinical characteristics of patients harbouring CSF2RA mutations

Characteristics
Female18/24 (75)
Consanguinity15/19# (79)
Age at onset years3 (0.2–19)
Age at diagnosis years5 (2.3–19)
Diagnostic latency years1 (0–5.8)
Signs at diagnosis
 Dyspnoea/tachypnoea17/24 (71)
 Hypoxaemia13/24 (54)
 Failure to thrive15/24 (63)
 Asymptomatic (familial screening)5/24 (21)
Outcome
 Length of follow-up2.5 (0–12.5)
 Age at last follow-up years11 (4.2–19)
 Death1/24 (4)
 Alive and asymptomatic11/24 (46)
 Alive and symptomatic without O27/24 (29)
 Alive and CRF5/24 (21)
Management
 WLL17/24 (72)
 BMT2/23 (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].