Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111996 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models