immunodeficiency 51

Term ID

DOID:0111996

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. https://pubmed.ncbi.nlm.nih.gov/27930337/

References

• OMIM:613953

Ontology

Human Disease   ( DOID:0111996 )