Table 4.
Other clinical features and outcome of patients with STAT1 GOF mutations
| Noninfectious phenotypes | Patients (%) |
|---|---|
| n = 274 | |
| Autoimmunity/inflammatory disease | 101 (37) |
| Thyroid disease | 61 (22) |
| Other endocrine disease* | 12 (4) |
| Skin disease† | 28 (10) |
| Gastrointestinal disease‡ | 11 (4) |
| Autoimmune hepatitis | 6 (2) |
| Autoimmune cytopenia§ | 11 (4) |
| Others|| | 3 (1) |
| Aneurysm | 17 (6) |
| Cerebral | 14 (5) |
| Extracerebral | 3 (1) |
| Tumor | 17 (6) |
| Benign | 2 (0.7) |
| Squamous cell carcinoma | 11 (4) |
| Gastrointestinal carcinoma | 2 (0.7) |
| Others¶ | 3 (1) |
| Other clinical features | |
| Asthma/eczema | 54 (20) |
| Bone fragility | 5 (2) |
| Clinical outcome | |
| Failure to thrive | 33 (12) |
| Dysphagia/esophageal stenosis | 31 (11) |
| Bronchiectasis | 57 (21) |
| Death | 34 (12) |
*
Diabetes mellitus, Addison’s disease, growth hormone deficiency.
†
Systemic lupus erythematosus (SLE), vitiligo, psoriasis, alopecia, scleroderma.
‡
Biermer anemia, celiac disease, colitis.
§
Immunological anemia or thrombocytopenia.
||
Multiple sclerosis, ankylosing spondylitis.
¶
Melanoma, basal cell carcinoma, acute lymphoblastic leukemia.