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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.
- 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