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

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

Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.

Détails bibliographiques
Publié dans:Clinical immunology (Orlando, Fla.). - 1999. - 148(2013), 2 vom: 26. Aug., Seite 279-86
Auteur principal: Caratão, Nadine (Auteur)
Autres auteurs: Cortesão, Catarina S, Reis, Pedro H, Freitas, Raquel F, Jacob, Cristina M A, Pastorino, Antonio C, Carneiro-Sampaio, Magda, Barreto, Vasco M
Format: Article en ligne
Langue:English
Publié: 2013
Accès à la collection:Clinical immunology (Orlando, Fla.)
Sujets:Case Reports Journal Article Research Support, Non-U.S. Gov't AID APOBEC1 Activation-induced cytidine deaminase CSR GC Hyper-immunoglobulin M Mutation plus... NES NLS PI SHM activation-induced cytidine deaminase apolipoprotein B mRNA editing catalytic polypeptide 1 class switch recombination gene conversion hAID human AID nuclear export signal nuclear localization signal propidium iodide somatic hypermutation wild type wt AICDA (Activation-Induced Cytidine Deaminase) EC 3.5.4.- Cytidine Deaminase EC 3.5.4.5
Description
Résumé:Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved.
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
Description:Date Completed 17.09.2013
Date Revised 03.01.2025
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2013.05.017