Accession Number:

AD1084872

Title:

A Novel Activation-Induced Cytidine Deaminase (AID) Mutation in an Adult with Hyper-IgM Syndrome (HIMS)

Descriptive Note:

Conference Paper

Corporate Author:

59 MDW San Antonio United States

Report Date:

2019-11-07

Pagination or Media Count:

2.0

Abstract:

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.

Subject Categories:

  • Medicine and Medical Research

Distribution Statement:

APPROVED FOR PUBLIC RELEASE