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https://observatorio.fm.usp.br/handle/OPI/4180
Title: | A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome |
Authors: | CARATAO, Nadine; CORTESAO, Catarina S.; REIS, Pedro H.; FREITAS, Raquel F.; JACOB, Cristina M. A.; PASTORINO, Antonio C.; CARNEIRO-SAMPAIO, Magda; BARRETO, Vasco M. |
Citation: | CLINICAL IMMUNOLOGY, v.148, n.2, p.279-286, 2013 |
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. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - HC/InCor Artigos e Materiais de Revistas Científicas - LIM/36 |
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