Immunodeficiency with Hyper-IgM Type 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive immunodeficiency that is caused by mutation(s) in the AICDA gene, single-stranded DNA cytosine deaminase. It is characterized by normal or elevated concentrations of IgM and decreased or absent concentrations of IgG, IgA, and IgE.

**Synonyms:** - HIGM2