Associated with somatic mutations | Associated with auto-antibodies |
ALPS-sFAS. Somatic mutations in TNFRSF6 | Chronic mucocutaneous candidiasis. (Isolated or with APECED syndrome). AutoAb to IL-17 and/or IL-22 |
RALD (RAS-associated autoinmuneLeukoproliferative disease). N-RAS GOF, K-RAS GOF | Adult onset immunodeficiency with susceptibility to mycobacteria. AutoAb to INF-γ. |
Cryopyrinipathy (Muckle-Wells/CINCA/NOMID-like). NRLP3 | Recurrent skin infections. AutoAb to IL-6. |
Hypereosinophilic syndrome due to mutations in STAT5b. STAT5b GOF | Pulmonary alveolar proteinosis. AutoAbto GM-CSF |
Acquired angioedema. AutoAb to C1 inhibitor. | |
Atypical Hemolytic Uremic Syndrome. AutoAb toFactor H. | |
Thymoma with hypogammaglobulinemia (Good syndrome). AutoAbto various cytokines. |