A Novel Activation-Induced Cytidine Deaminase (AID) Mutation in an Adult with Hyper-IgM Syndrome (HIMS)
59 MDW San Antonio United States
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Hyper IgM HIGM Syndrome is an immunodeficiency with defects in class switch recombination CSR and somatic hypermutation SHM. A mutation in the activation-induced cytidine deaminase AICDA gene encoding activation-induced cytidinedeaminase AID, a protein involved in CSR, causes an autosomal recessive form of HIGM known as HIGM2. Here we report a case of a novel autosomal dominant mutation in the AICDA gene not previously published.
- Medicine and Medical Research