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RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.

作者信息

Westermann-Clark Emma, Grossi Alice, Fioredda Francesca, Giardino Stefano, Cappelli Enrico, Terranova Paola, Palmisani Elena, Farmer Jocelyn R, Foldvari Zsofia, Yamazaki Yasuhiro, Faraci Maura, Lanino Edoardo, Notarangelo Luigi D, Dufour Carlo, Ceccherini Isabella, Walter Jolan E, Miano Maurizio

机构信息

University of South Florida Morsani College of Medicine, Department of Internal Medicine, Division of Allergy/Immunology, Tampa, FL, USA.

Medical Genetics Unit, Istituto Giannina Gaslini, Genoa, Italy.

出版信息

Clin Immunol. 2018 Feb;187:102-103. doi: 10.1016/j.clim.2017.10.012. Epub 2017 Nov 20.

DOI:10.1016/j.clim.2017.10.012
PMID:29104089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5941932/
Abstract
摘要

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RAG deficiency with ALPS features successfully treated with TCRαβ/CD19 cell depleted haploidentical stem cell transplant.具有自身免疫性淋巴细胞增生综合征（ALPS）特征的重组激活基因（RAG）缺陷通过TCRαβ/CD19细胞去除的单倍体相合干细胞移植成功治疗。
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2
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本文引用的文献

1
T-cell receptor αβ and CD19 cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.T 细胞受体 αβ 和 CD19 细胞耗竭的半相合和不合造血干细胞移植治疗原发性免疫缺陷。
J Allergy Clin Immunol. 2018 Apr;141(4):1417-1426.e1. doi: 10.1016/j.jaci.2017.07.008. Epub 2017 Aug 3.
2
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.RAG缺陷中针对自身抗原和细胞因子的广谱抗体。
J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162.
3
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.一名患有联合免疫缺陷、肉芽肿病及因RAG缺陷继发自身免疫性疾病患者的非亲缘造血干细胞移植
J Clin Immunol. 2016 Oct;36(7):725-32. doi: 10.1007/s10875-016-0326-x. Epub 2016 Aug 18.
4
Single-Center Experience of Unrelated and Haploidentical Stem Cell Transplantation with TCRαβ and CD19 Depletion in Children with Primary Immunodeficiency Syndromes.单中心关于原发性免疫缺陷综合征患儿接受TCRαβ和CD19清除的非亲缘及单倍体相合干细胞移植的经验
Biol Blood Marrow Transplant. 2015 Nov;21(11):1955-62. doi: 10.1016/j.bbmt.2015.07.008. Epub 2015 Jul 15.
5
HLA-haploidentical stem cell transplantation after removal of αβ+ T and B cells in children with nonmalignant disorders.HLA 单倍体相合干细胞移植后去除αβ+T 和 B 细胞在非恶性疾病患儿中的应用。
Blood. 2014 Jul 31;124(5):822-6. doi: 10.1182/blood-2014-03-563817. Epub 2014 May 28.
6
Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested.低表达重组激活基因（RAG）突变的教训：为何也应对无症状的兄弟姐妹进行检测。
J Allergy Clin Immunol. 2014 Apr;133(4):1211-5. doi: 10.1016/j.jaci.2013.10.021. Epub 2013 Dec 10.
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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.
8
New insights into childhood autoimmune hemolytic anemia: a French national observational study of 265 children.儿童自身免疫性溶血性贫血的新认识：法国全国 265 例儿童观察研究。
Haematologica. 2011 May;96(5):655-63. doi: 10.3324/haematol.2010.036053. Epub 2011 Jan 12.
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Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).揭开伊文氏综合征的面纱：T细胞表型与凋亡反应揭示自身免疫性淋巴增生综合征（ALPS）。
Blood. 2005 Mar 15;105(6):2443-8. doi: 10.1182/blood-2004-09-3542. Epub 2004 Nov 12.
10
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.由于重组激活基因（RAG）突变导致淋巴细胞中的V（D）J重组缺陷：伴有一系列临床表现的严重免疫缺陷。
Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81.