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Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells.

作者信息

Hedayat Mona, Massaad Michel J, Lee Yu Nee, Conley Mary Ellen, Orange Jordan S, Ohsumi Toshiro K, Al-Herz Waleed, Notarangelo Luigi D, Geha Raif S, Chou Janet

机构信息

Division of Immunology, Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.

St Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY.

出版信息

J Allergy Clin Immunol. 2014 Oct;134(4):983-5.e1. doi: 10.1016/j.jaci.2014.04.037. Epub 2014 Jun 27.

DOI:10.1016/j.jaci.2014.04.037
PMID:24985406
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4186892/
Abstract
摘要

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本文引用的文献

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A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.人类重组激活基因 1 缺陷中的重组活性和基因型-表型相关性的系统分析。
J Allergy Clin Immunol. 2014 Apr;133(4):1099-108. doi: 10.1016/j.jaci.2013.10.007. Epub 2013 Nov 28.
2
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.
3
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.基于人群的新生儿重症联合免疫缺陷症筛查的实验室技术：赢家是 T 细胞受体切除环。
J Allergy Clin Immunol. 2012 Mar;129(3):607-16. doi: 10.1016/j.jaci.2012.01.032. Epub 2012 Jan 29.
4
Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.高通量三重实时 PCR 用于新生儿严重原发性免疫缺陷病的筛查。
Blood. 2012 Mar 15;119(11):2552-5. doi: 10.1182/blood-2011-08-371021. Epub 2011 Nov 30.
5
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.
6
RAG-dependent primary immunodeficiencies.与重组激活基因（RAG）相关的原发性免疫缺陷病
Hum Mutat. 2006 Dec;27(12):1174-84. doi: 10.1002/humu.20408.
7
Novel RAG1 mutation in a case of severe combined immunodeficiency.一例重症联合免疫缺陷患者中的新型RAG1突变
Pediatrics. 2005 Sep;116(3):e445-9. doi: 10.1542/peds.2005-0369. Epub 2005 Aug 1.
8
RAG and RAG defects.
Curr Opin Immunol. 1999 Aug;11(4):435-42. doi: 10.1016/S0952-7915(99)80073-9.
9
Regions of RAG1 protein critical for V(D)J recombination.RAG1蛋白中对V(D)J重组至关重要的区域。
Eur J Immunol. 1996 Apr;26(4):886-91. doi: 10.1002/eji.1830260425.