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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 IL17RA 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

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