Term Name: | immunodeficiency 51 |
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Synonyms: | CANDF5, familial candidiasis 5, IMD51 |
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. |
Ontology: | Human Disease [DOID:0111996] ( DOID:0111996 ) |