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immunodeficiency 31C
Summary
- Synonym
-
- CANDF7
- IMD31C
- autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
- autosomal dominant chronic mucocutaneous familial candidiasis
- autosomal dominant immunodeficiency 31C
- familial candidiasis 7
- 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.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111946
- Mondo Disease Ontology
- ORDO
- OMIM
