Table 2.
Detailed lung phenotypes of STAT3-HIES.
| Variable (n, %) | All, n = 164 | DBD variants, n = 89 | SH2 or TA domain variants, n = 75 | R382 variants, n = 49 | V637 variants, n = 26 |
|---|---|---|---|---|---|
| Asthma | 41 (25.0) | 22 (24.7) | 19 (25.3) | 11 (22.4) | 5 (19.2) |
| ABPA/ABPM | 9 (5.5) | 7 (7.9) | 2 (2.7) | 3 (6.1) | 1 (3.8) |
| Tracheal diverticuli | 39 (23.8) | 18 (20.2) | 21 (28.0) | 10 (20.8) | 8 (30.8) |
| Aspergillus infection | 55 (33.5) | 32 (36.0) | 23 (30.7) | 17 (34.7) | 9 (34.6) |
| Pseudomonas infection | 51 (31.1) | 29 (32.6) | 22 (29.3) | 17 (34.7) | 9 (34.6) |
| Non-tuberculous mycobacterial infection | 19 (11.6) | 10 (11.2) | 9 (12.0) | 4 (8.2) | 2 (7.7) |
| Lung parenchyma surgery | 42 (25.6) | 19 (21.4) | 23 (30.7) | 10 (20.4) | 9 (34.6) |
| Prolonged bronchopulmonary fistula (> 2 weeks) | 20 (12.2) | 14 (15.7) | 6 (8.0) | 9 (18.4) | 2 (7.7) |
| Long-term oxygen supplementation | 12 (7.3) | 5 (5.6) | 7 (9.3) | 1 (2.0) | 3 (11.5) |
| Non-invasive ventilation | 12 (7.3) | 4 (4.5) | 9 (12.0) | 2 (4.1) | 2 (7.7) |
Abbreviations: HIES, hyper-IgE syndrome; DBD, DNA-binding domain; SH2, Src homology 2; TA, transactivation; ABPA/ABPM, allergic bronchopulmonary aspergillosis/mycosis.