Table 1 Demographics and clinical profile of all published cases with CSF2RA mutations

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.