C176416Level 7
Immunodeficiency with Hyper-IgM, Type 3
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal recessive subtype of immunodeficiency with hyper-IgM caused by mutation(s) in the CD40 gene, encoding tumor necrosis factor receptor superfamily member 5.
**Synonyms:** - CD40 Deficiency - CD40 deficiency - HIGM3
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