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).


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.