Characteristics of 140 genetic-positive patients in the study among subgroups
| Categories of diseases | Total (n=140) | Neonates (n=31) | Infants (n=38) | Children (n=71) |
| Sex, male | 98 (70%) | 19 (61.3%) | 30 (78.9%) | 49 (69%) |
| Respiratory symptom onset age, median (range) | 7 months (0–7.7 years) | 0 (0–1 day) | 2.3 months (0–7.5 months) | 1 year (0–7.7 years) |
| Enrolment age, median (range) | 3.6 years (0–17.8 years) | 10.5 days (0–26 days) | 5.5 months (38 days–1 year) | 6.8 years (1–17.8 years) |
| Principal respiratory phenotype | ||||
| Respiratory distress, no (%) | 18 (12.9) | 17 (54.8) | 1 (2.6) | 0 |
| Respiratory failure, no (%) | 18 (12.9) | 14 (45.2) | 3 (7.9) | 1 (1.4) |
| RLRI/PLRI, no (%) | 93 (66.4) | 0 | 30 (78.9) | 63 (88.7) |
| Other (interstitial lung disease, oxygen dependency, exercise intolerance) | 11 (7.8%) | 0 | 4 (10.6%) | 7 (9.9%) |
| Method | ||||
| Panel, no (%) | 48 (34.3) | 29 (93.5) | 8 (21.1) | 11 (15.5) |
| WES, no (%) | 92 (65.7) | 2 (6.5) | 30 (78.9) | 60 (84.5) |
PLRI, persistent lower respiratory infection; RLRI, recurrent lower respiratory infection; WES, whole-exome sequencing.