C176825Level 7
Interferon Regulatory Factor 8 Deficiency
**Semantic type:** Disease or Syndrome
**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.
**Synonyms:** - IRF8 Deficiency - IRF8, Dendritic cell immunodeficiency
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