immunodeficiency 51 (DOID:0111996)
Alliance: disease page
Synonyms: CANDF5; familial candidiasis 5; IMD51
Alt IDs: OMIM:613953
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.