Table 1.
Clinical manifestations of STAT1 mutations modeled in this work.
| Mutation | Designation | Fungal infections | Bacterial infections | Viral infections | Mycobacterial infections | Autoimmunity/endocrinopathy | Vascular abnormalities | Malignancy | Other |
|---|---|---|---|---|---|---|---|---|---|
| E235G (c.704A>G) | AD GOF | CMCC | Sinopulmonary infections, bacterial skin infections with abscess formation | Recurrent HSV labialis | Mycobacterial pneumonia | Alopecia | Carotid and celiac/splenic artery dissection | HPV+squamous cell carcinoma, basal cell carcinoma | ND |
| K278E (c.832A>G) | AD GOF | CMCC | Bacterial skin infections | Recurrent HSV stomatitis, recurrent Herpes zoster | ND | Positive auto-antibodies (ANA, microsomal, anti-TSH, anti-IL-17F) | ND | ND | ND |
| P329L (c.986C>T) | AD GOF | CMCC | Yes, no details provided | Recurrent HSV stomatitis | ND | Autoimmune hemolytic anemia, red blood cell aplasia | ND | ND | ND |
| T385M (c.1154C>T) | AD GOF | CMCC, invasive fungal infections | Sinopulmonary infections | EBV, CMV, recurrent severe VZV | Variety of mycobacterial infections reported | Enteropathy, T1DM, thyroiditis, autoimmune cytopenias, vitiligo, growth hormone deficiency, autoimmune hepatitis | Intracranial aneurysms | ND | Recurrent fractures, eczema, chronic adenopathy, multifocal leuko-encephalopathy |
| D517G (c.1550A>G) | AD GOF | CMCC, invasive fungal infections | ND | ND | ND | ND | ND | ND | ND |
| Y701C (c.2102A>G) | AD LOF | ND | ND | ND | Invasive mycobacterial infections | ND | ND | ND | Multifocal osteomyelitis |
AD autosomal dominant, ANA anti-nuclear antibody, CMCC chronic mucocutaneous Candidiasis, CMV cytomegalovirus, EBV Epstein-Barr virus, GOF gain-of-function, HPV human papillomavirus, HSV, human herpesvirus, LOF loss-of-function, ND not described, T1DM Type 1 diabetes mellitus, TSH thyroid-stimulating hormone, VZV Varicella zoster virus.