Term Name: | immunodeficiency 31C |
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Synonyms: | autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome, autosomal dominant chronic mucocutaneous familial candidiasis, autosomal dominant immunodeficiency 31C, CANDF7, familial candidiasis 7, IMD31C |
Definition: | A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. |
Ontology: | Human Disease [DOID:0111946] ( DOID:0111946 ) |