immunodeficiency 31C (DOID:0111946)
Alliance: disease page
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
Alt IDs: OMIM:614162, ORDO:391487
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.