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) |
| 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.