Disease-gene associations mined from literature

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,  IMD51,  familial candidiasis 5 ...