Preferred Label : Interferon Regulatory Factor 8 Deficiency;
NCIt synonyms : IRF8 Deficiency;
NCIt related terms : IRF8, Dendritic cell immunodeficiency;
NCIt definition : A genetic condition caused by mutation(s) in the IRF8 gene encoding interferon regulatory
factor 8. Autosomal dominant (Immunodeficiency 32A) and autosomal recessive (Immunodeficiency
32B) genetic alterations result in different phenotypes, both of which have impairment
of function in dendritic cells.;
NCI Metathesaurus CUI : CL1642591;
Origin ID : C176825;
UMLS CUI : C5447454;
Semantic type(s)
- disease_has_primary_anatomic_site
- disease_mapped_to_gene
