Human genes for immunodeficiency 51
Immunodeficiency 51 [DOID:0111996]
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 IL17RA on chromosome 22q11.1.
Synonyms: immunodeficiency 51, DOID:0111996, CANDF5, familial candidiasis 5, IMD51 ...