Metadata | |
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ID | DOID:0111996 |
Name | immunodeficiency 51 |
Definition | A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. https://pubmed.ncbi.nlm.nih.gov/27930337/ |
Xrefs | |
Synonyms |
CANDF5 [EXACT] familial candidiasis 5 [EXACT] IMD51 [EXACT] |
Parent Relationships |