Back to Search Start Over

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.

Authors :
Caratão, Nadine
Cortesão, Catarina S.
Reis, Pedro H.
Freitas, Raquel F.
Jacob, Cristina M.A.
Pastorino, Antonio C.
Carneiro-Sampaio, Magda
Barreto, Vasco M.
Source :
Clinical Immunology. Aug2013, Vol. 148 Issue 2, p279-286. 8p.
Publication Year :
2013

Abstract

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. [Copyright &y& Elsevier]

Details

Language :
English
ISSN :
15216616
Volume :
148
Issue :
2
Database :
Academic Search Index
Journal :
Clinical Immunology
Publication Type :
Academic Journal
Accession number :
89692490
Full Text :
https://doi.org/10.1016/j.clim.2013.05.017