Interferon Regulatory Factor 8 Deficiency

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;

Details

Origin ID

C176825;

UMLS CUI

C5447454;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_mapped_to_gene
- IRF8 Gene [NCIt concept]

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