Term Name: immunodeficiency 51
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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease