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DC Field | Value | Language |
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dc.contributor | Sistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP | - |
dc.contributor.author | CARATAO, Nadine | - |
dc.contributor.author | CORTESAO, Catarina S. | - |
dc.contributor.author | REIS, Pedro H. | - |
dc.contributor.author | FREITAS, Raquel F. | - |
dc.contributor.author | JACOB, Cristina M. A. | - |
dc.contributor.author | PASTORINO, Antonio C. | - |
dc.contributor.author | CARNEIRO-SAMPAIO, Magda | - |
dc.contributor.author | BARRETO, Vasco M. | - |
dc.date.accessioned | 2014-01-28T22:25:57Z | - |
dc.date.available | 2014-01-28T22:25:57Z | - |
dc.date.issued | 2013 | - |
dc.identifier.citation | CLINICAL IMMUNOLOGY, v.148, n.2, p.279-286, 2013 | - |
dc.identifier.issn | 1521-6616 | - |
dc.identifier.uri | https://observatorio.fm.usp.br/handle/OPI/4180 | - |
dc.description.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. | - |
dc.description.sponsorship | FAPESP (Fundacao de Amparo a Pesquisa do Estado de Sao Paulo) [2008/58238-4] | - |
dc.description.sponsorship | Marie Curie IRG [PIRG03-GA-2008-230967] | - |
dc.description.sponsorship | Terry Fox Foundation (Liga Portuguesa Contra o Cancro) | - |
dc.description.sponsorship | Associacao Portuguesa Contra a Leucemia | - |
dc.language.iso | eng | - |
dc.publisher | ACADEMIC PRESS INC ELSEVIER SCIENCE | - |
dc.relation.ispartof | Clinical Immunology | - |
dc.rights | restrictedAccess | - |
dc.subject | Hyper-immunoglobulin M | - |
dc.subject | Activation-induced cytidine deaminase | - |
dc.subject | Mutation | - |
dc.subject.other | class-switch recombination | - |
dc.subject.other | x-linked immunodeficiency | - |
dc.subject.other | immunoglobulin-m syndrome | - |
dc.subject.other | autosomal recessive form | - |
dc.subject.other | cd40 ligand | - |
dc.subject.other | somatic hypermutation | - |
dc.subject.other | ectodermal dysplasia | - |
dc.subject.other | defective expression | - |
dc.subject.other | genetic-analysis | - |
dc.subject.other | deficiency | - |
dc.title | A novel activation-induced cytidine deaminase (AID) mutation in Brazilian patients with hyper-IgM type 2 syndrome | - |
dc.type | article | - |
dc.rights.holder | Copyright ACADEMIC PRESS INC ELSEVIER SCIENCE | - |
dc.identifier.doi | 10.1016/j.clim.2013.05.017 | - |
dc.identifier.pmid | 23803409 | - |
dc.subject.wos | Immunology | - |
dc.type.category | original article | - |
dc.type.version | publishedVersion | - |
hcfmusp.author.external | CARATAO, Nadine:Inst Gulbenkian Ciencias, P-2780156 Oeiras, Portugal | - |
hcfmusp.author.external | CORTESAO, Catarina S.:Inst Gulbenkian Ciencias, P-2780156 Oeiras, Portugal | - |
hcfmusp.author.external | FREITAS, Raquel F.:Inst Gulbenkian Ciencias, P-2780156 Oeiras, Portugal | - |
hcfmusp.author.external | BARRETO, Vasco M.:Inst Gulbenkian Ciencias, P-2780156 Oeiras, Portugal | - |
hcfmusp.description.beginpage | 279 | - |
hcfmusp.description.endpage | 286 | - |
hcfmusp.description.issue | 2 | - |
hcfmusp.description.volume | 148 | - |
hcfmusp.origem | WOS | - |
hcfmusp.origem.id | WOS:000322101300015 | - |
hcfmusp.origem.id | 2-s2.0-84880272979 | - |
hcfmusp.publisher.city | SAN DIEGO | - |
hcfmusp.publisher.country | USA | - |
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dc.description.index | MEDLINE | - |
hcfmusp.remissive.sponsorship | FAPESP | - |
hcfmusp.citation.scopus | 7 | - |
hcfmusp.scopus.lastupdate | 2024-04-12 | - |
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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