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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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Author(s):
Caratao, Nadine [1] ; Cortesao, Catarina S. [1] ; Reis, Pedro H. [2] ; Freitas, Raquel F. [1] ; Jacob, Cristina M. A. [2] ; Pastorino, Antonio C. [2] ; Carneiro-Sampaio, Magda [2] ; Barreto, Vasco M. [1]
Total Authors: 8
Affiliation:
[1] Inst Gulbenkian Ciencias, P-2780156 Oeiras - Portugal
[2] Univ Sao Paulo, Fac Med, Inst Crianca, BR-05508 Sao Paulo - Brazil
Total Affiliations: 2
Document type: Journal article
Source: Clinical Immunology; v. 148, n. 2, p. 279-286, AUG 2013.
Web of Science Citations: 3
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. (C) 2013 The Authors. Published by Elsevier Inc. All rights reserved. (AU)

FAPESP's process: 08/58238-4 - Autoimmunity in children: investigation of the molecular and cellular bases of early onset of autoimmunity
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Research Projects - Thematic Grants