Table 3.
Less recognized phenotypes of STAT3-HIES.
| Variables (n, %) | All, n = 164 | DBD variants, n = 89 | SH2 or TA domain variants, n = 75 | R382 variants, n = 49 | V637 variants, n = 26 |
|---|---|---|---|---|---|
| Intestinal perforation | 10 (6.1) | 6 (6.7) | 4 (5.3) | 6 (12.2) | 2 (7.7) |
| Gastrointestinal bleeding | 14 (8.5) | 7 (7.9) | 7 (9.3) | 3 (6.1) | 0 (0.0) |
| Necrotizing fasciitis | 7 (4.3) | 3 (3.4) | 4 (5.3) | 2 (4.1) | 1 (3.8) |
| Joint replacement surgery | 7 (4.3) | 1 (1.1) | 6 (8.0) | 0 (0.0) | 1 (3.8) |
| Degenerative spine surgery | 8 (4.9) | 6 (6.7) | 2 (2.7) | 3 (6.1) | 0 (0.0) |
| Clinical autoimmunity1 | 13 (7.9) | 9 (10.1) | 4 (5.3) | 6 (12.2) | 1 (3.8) |
| Coronary artery abnormalities2 | 73 (56.6) (n = 129) | 36 (51.4) (n = 70) | 37 (62.7) (n = 59) | 19 (54.3) (n = 35) | 13 (56.5) (n = 23) |
| Vascular aneurysm | 9 (5.5) | 1 (1.1) | 8 (10.7) | 1 (2.0) | 2 (7.7) |
| Herpes zoster infection | 35 (21.3) | 22 (24.7) | 13 (17.3) | 11 (22.4) | 6 (23.1) |
| PPSV23-related reactions | 26 (54.2) (n = 48) | 11 (47.8) (n = 23) | 15 (60.0) (n = 25) | 5 (35.7) (n = 14) | 6 (66.7) (n = 9) |
| Aphthous ulcers | 83 (50.6) | 40 (44.9) | 43 (57.3) | 23 (46.9) | 12 (46.2) |
Abbreviations: HIES, hyper-IgE syndrome; DBD, DNA-binding domain; SH2, Src homology 2; TA, transactivation; PPSV23, pneumococcal polysaccharide vaccine 23-valent.
1.
Clinical autoimmunity includes lupus or -like diseases (n = 11) and autoimmune thyroid diseases (n = 2).
2.
Coronary artery abnormalities include tortuous artery, dilation, and aneurysms detected on coronary computed tomography angiography.