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Metadata
ID	DOID:0111996
Name	immunodeficiency 51
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. https://pubmed.ncbi.nlm.nih.gov/27930337/
Xrefs	OMIM:613953
Synonyms	CANDF5 [EXACT] familial candidiasis 5 [EXACT] IMD51 [EXACT]
Parent Relationships	is_a primary immunodeficiency disease is_a autosomal recessive disease