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Compound heterozygous RAG2 mutations mimicking hyper IgM syndrome.

作者信息

Riccetto A G L, Buzolin M, Fernandes J F, Traina F, Barjas-de-Castro M L R, Silva M T N, Oliveira J B, Vilela M M

机构信息

Department of Pediatrics, Center for Investigation in Pediatrics-CIPED, University of Campinas Medical School -Unicamp, Rua Tessalia Vieira de Camargo 126, Campinas, São Paulo, Brazil, CEP 13083-887.

出版信息

J Clin Immunol. 2014 Jan;34(1):7-9. doi: 10.1007/s10875-013-9956-4. Epub 2013 Oct 31.

DOI:10.1007/s10875-013-9956-4
PMID:24174341
Abstract
摘要

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本文引用的文献

1
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome.在两名具有不同临床表型（欧门综合征和高IgM综合征）的亲属中，重组激活基因2出现一种新的纯合突变。
J Allergy Clin Immunol. 2012 Dec;130(6):1414-6. doi: 10.1016/j.jaci.2012.06.012. Epub 2012 Jul 25.
2
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.原发性免疫缺陷病：国际免疫学联盟原发性免疫缺陷专家委员会分类更新。
Front Immunol. 2011 Nov 8;2:54. doi: 10.3389/fimmu.2011.00054. eCollection 2011.
3
J Clin Immunol. 2019 Oct;39(7):688-701. doi: 10.1007/s10875-019-00670-z. Epub 2019 Aug 6.
4
Biological Characteristics of Severe Combined Immunodeficient Mice Produced by CRISPR/Cas9-Mediated and Mutation.CRISPR/Cas9介导突变产生的严重联合免疫缺陷小鼠的生物学特性
Front Genet. 2019 Apr 30;10:401. doi: 10.3389/fgene.2019.00401. eCollection 2019.
Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations.
RAG 突变继发的特发性 CD4+ T 淋巴细胞减少症，无自身免疫或肉芽肿性疾病。
Blood. 2011 Jun 2;117(22):5892-6. doi: 10.1182/blood-2011-01-329052. Epub 2011 Apr 18.
4
Highly variable clinical phenotypes of hypomorphic RAG1 mutations.低功能 RAG1 突变的高度可变临床表型。
Pediatrics. 2010 Nov;126(5):e1248-52. doi: 10.1542/peds.2009-3171. Epub 2010 Oct 18.
5
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.低等位基因突变可引起破坏性中线肉芽肿病。
Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.
6
More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.不仅仅是 SCID——与重组激活基因 (RAG) 1 和 2 突变相关的联合免疫缺陷的表型范围。
Clin Immunol. 2010 May;135(2):183-92. doi: 10.1016/j.clim.2010.01.013. Epub 2010 Feb 20.