Term Name: immunodeficiency 31C
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 )

Relationships
is a type of: autosomal dominant disease primary immunodeficiency disease