| 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 the STAT1 gene 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 | |
| Subsets |
DO_rare_slim |
| 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 |