Table 1.
Demographics and clinical profile of all published cases with CSF2RA mutations
| Current cohort (n = 9) | Literature (n = 11) [ 10-12,14,16 ] | Total (n = 20) | |
|---|---|---|---|
| Family history | |||
| Sex (female) | 7 (78%) | 10 (91%) | 17 (85%) |
| Term born | 8 (89%) | 9 (81%) | 17 (85%) |
| Consanguinity | 8 (89%) | ≥ 3 (27%) | ≥ 11 (55%) |
| ILD in family | 1 (11%) | n.a. | ≥ 1 (5%) |
| Symptoms at presentation | |||
| Dyspnea | 7 (78%) | 7 (63%) | 14 (70%) |
| Tachypnea | 3 (33%) | n.a. | ≥ 3 (15%) |
| Hypoxaemia | 5 (56%) | 6 (55%) | 11 (55%) |
| Global respiratory failure | 3 (33%) | 4 (36%) | 7 (35%) |
| Endotracheal intubation and ventilation | 3 (33%) | n.a. | ≥ 3 (15%) |
| Cough | 5 (56%) | n.a. | ≥ 5 (26%) |
| Fever | 1 (11%) | n.a. | ≥ 1 (5%) |
| Severe pulmonary infections prior to PAP | 6 (66%) | ≥ 3 (27%) | ≥ 9 (45%) |
| Mycoplasma pneumoniae | 2 (22%) | n.a. | ≥ 2 (10%) |
| Influenza | 1 (11%) | 0 (0%) | 1 (5%) |
| RSV | 0 (0%) | 1 (9%) | 1 (5%) |
| Clinical follow-up | |||
| Age at symptom onset, yr | 3.5 (0.2-19) | 4 (1.5-9) | 4 (0.2-19) |
| Age at PAP diagnosis, yr | 5.3 (2.3-19) | 6 (2.5-11) | 5.9 (2.3-19) |
| Diagnostic latency, yr | 0.1 (0–5.8) | 2 (1–2.5) | 1 (0–5.8) |
| Time of follow-up, yr | 2.5 (0.3-12.5) | 1.7 (0.9-3) | 2.5 (0–12.5) |
| Outcome | |||
| Alive | 9 (100%) | ≥ 9 (82%) | 18 (90%) |
| Best respiratory status: asymptomatic | 7 (78%) | 3 (27%) | 10 (50%) |
| Last respiratory status: asymptomatic | 3 (33%) | 3 (27%) | 6 (30%) |
| Disease progression: improving | 7 (78%) | ≥ 3 (27%) | ≥ 10 (50%) |
| Comorbidities | |||
| Failure to thrive | 7 (78%) | 4 (36%) | 11 (55%) |
| PEG placement | 2 (22%) | n.a. | ≥ 2 (10%) |
| Clubbing | 6 (66%) | n.a. | ≥ 6 (30%) |
| Hepatomegaly | 1 (11%) | n.a. | ≥ 1 (5%) |
| Pectus excavatum | 2 (22%) | n.a. | ≥ 2 (10%) |
| WLL therapy | |||
| WLL therapy | 7 (78%) | ≥ 7 (64%) | ≥ 14 (70%) |
| Total number of WLL | 19.3 (3–56) | n.a. | n.a. |
| Number of WLL per yr of follow-up | 1.1 (0.7-6.8) | n.a. | n.a. |