| Texto completo | |
| Autor(es): |
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]
Número total de Autores: 8
|
| Afiliação do(s) autor(es): | [1] Inst Gulbenkian Ciencias, P-2780156 Oeiras - Portugal
[2] Univ Sao Paulo, Fac Med, Inst Crianca, BR-05508 Sao Paulo - Brazil
Número total de Afiliações: 2
|
| Tipo de documento: | Artigo Científico |
| Fonte: | Clinical Immunology; v. 148, n. 2, p. 279-286, AUG 2013. |
| Citações Web of Science: | 3 |
| Resumo | |
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) | |
| Processo FAPESP: | 08/58238-4 - Autoimunidade na criança: investigação das bases moleculares e celulares da autoimunidade de início precoce |
| Beneficiário: | Magda Maria Sales Carneiro-Sampaio |
| Modalidade de apoio: | Auxílio à Pesquisa - Temático |