Table 1.
Clinical manifestations of STAT3 gain-of-function patients
| Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|
| STAT3 mutation | K658N | K392R | M394T |
| Sex | Female | Female | Female |
| Age (y) | 17 | 15 | 22 |
| Birthweight (SD) | 0 | −5 | 0 |
| Growth (SD) | −4 | −7 | 0 |
| Delayed puberty | Delayed puberty | Normal puberty | |
| Infection susceptibility | Upper respiratory tract infections | Lower respiratory tract infections | Nontuberculous mycobacteria |
| Severe dental caries | Severe dental caries | Lower respiratory tract infections | |
| Severe varicella | |||
| Endocrine | Subclinical hypothyreosis with TPO positivity | Neonatal diabetes with positive IAA/GADA/ICA autoantibodies | — |
| Gastrointestinal | Autoimmune enteropathy | Celiac disease | Lymphocytic colitis |
| Rudimentary pancreas | |||
| Skin | Generalized, livedo-like exfoliating dermatitis | — | Mild atopic-like eczema |
| Pulmonary | Cryptogenic organizing pneumonia, asthma-like symptoms, bronchiectasis | Desquamative interstitial pneumonitis | Nontuberculous mycobacteria |
| Hematology | Lymphadenopathy consisting of polyclonal CD4+ cells hepatosplenomegaly | T-cell LGL leukemia | Immune thrombocytopenia |
| BM eosinophilia | BM eosinophilia | ||
| Autoimmune hemolytic anemia | Autoimmune hemolytic anemia | ||
| Autoinflammation | Sterile pleuritis or serositis with high fever and elevated inflammatory markers | — | — |
| Other | Sicca syndrome and bilateral posterior uveitis with cystic macular edema | Severe allergy | — |
IAA, insulin autoantibodies; GADA, glutamic acid decarboxylase autoantibodies; ICA, islet cell autoantibodies; TPO, antithyroid peroxidase antibody.