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A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome.

Abstract
Activation-induced cytidine deaminase (AID) is a DNA editing protein that plays an essential role in three major events of immunoglobulin (Ig) diversification: somatic hypermutation, class switch recombination and Ig gene conversion. Mutations in the AID gene (AICDA) have been found in patients with autosomal recessive Hyper-IgM (HIGM) syndrome type 2. Here, two 9- and 14-year-old Brazilian sisters, from a consanguineous family, were diagnosed with HIGM2 syndrome. Sequencing analysis of the exons from AICDA revealed that both patients are homozygous for a single C to G transversion in the third position of codon 15, which replaces a conserved Phenylalanine with a Leucine. To our knowledge, this is a new AICDA mutation found in HIGM2 patients. Functional studies confirm that the homologous murine mutation leads to a dysfunctional protein with diminished intrinsic cytidine deaminase activity and is unable to rescue CSR when introduced in Aicda(-/-)stimulated murine B cells. We briefly discuss the relevance of AICDA mutations found in patients for the biology of this molecule.
AuthorsNadine Caratão, Catarina S Cortesão, Pedro H Reis, Raquel F Freitas, Cristina M A Jacob, Antonio C Pastorino, Magda Carneiro-Sampaio, Vasco M Barreto
JournalClinical immunology (Orlando, Fla.) (Clin Immunol) Vol. 148 Issue 2 Pg. 279-86 (Aug 2013) ISSN: 1521-7035 [Electronic] United States
PMID23803409 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
Chemical References
  • AICDA (activation-induced cytidine deaminase)
  • Cytidine Deaminase
Topics
  • Adolescent
  • Amino Acid Sequence
  • Amino Acid Substitution
  • Brazil (epidemiology)
  • Child
  • Cytidine Deaminase (genetics, metabolism)
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hyper-IgM Immunodeficiency Syndrome (epidemiology, genetics, metabolism)
  • Mutation

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