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Metadata
ID DOID:0111946
Name immunodeficiency 31C
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 STAT1 on chromosome 2q32.2.
https://pubmed.ncbi.nlm.nih.gov/21714643/, https://pubmed.ncbi.nlm.nih.gov/23534974/, https://pubmed.ncbi.nlm.nih.gov/23541320/
Xrefs

OMIM:614162

ORDO:391487

Synonyms

autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome [EXACT]

autosomal dominant chronic mucocutaneous familial candidiasis [EXACT]

autosomal dominant immunodeficiency 31C [EXACT]

CANDF7 [EXACT]

familial candidiasis 7 [EXACT]

IMD31C [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal dominant disease

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