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EBV-associated lymphoproliferative disorder in a patient with X-linked severe combined immunodeficiency with multiple reversions of an mutation in T cells.

作者信息

Wada Fumiya, Kondo Tadakazu, Nakamura Momoko, Uno Shunsuke, Fujimoto Masakazu, Miyamoto Takayuki, Honda Yoshitaka, Shibata Hirofumi, Izawa Kazushi, Yasumi Takahiro, Nishikori Momoko, Takaori-Kondo Akifumi

机构信息

Department of Hematology and Oncology Graduate School of Medicine Kyoto University Kyoto Japan.

Department of Diagnostic Pathology Graduate School of Medicine Kyoto University Kyoto Japan.

出版信息

EJHaem. 2020 Oct 30;1(2):581-584. doi: 10.1002/jha2.119. eCollection 2020 Nov.

DOI:10.1002/jha2.119
PMID:35845012
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9175913/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2d6/9175913/7a3307f3a733/JHA2-1-581-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2d6/9175913/7a3307f3a733/JHA2-1-581-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2d6/9175913/7a3307f3a733/JHA2-1-581-g001.jpg

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EBV-associated lymphoproliferative disorder in a patient with X-linked severe combined immunodeficiency with multiple reversions of an mutation in T cells.一名患有X连锁严重联合免疫缺陷且T细胞中一个突变多次回复的患者的EBV相关淋巴增殖性疾病。
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本文引用的文献

1
Primary immunodeficiencies associated with EBV-Induced lymphoproliferative disorders.与EB病毒诱导的淋巴增殖性疾病相关的原发性免疫缺陷
Crit Rev Oncol Hematol. 2016 Dec;108:109-127. doi: 10.1016/j.critrevonc.2016.10.014. Epub 2016 Nov 2.
2
Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism.具有新型IL2RG突变和可能的回复性体细胞镶嵌现象的迟发性联合免疫缺陷
J Clin Immunol. 2015 Oct;35(7):610-4. doi: 10.1007/s10875-015-0202-0. Epub 2015 Sep 26.
3
IL2RG reversion event in a common lymphoid progenitor leads to delayed diagnosis and milder phenotype.
常见淋巴样祖细胞中的IL2RG逆转事件导致诊断延迟和较轻的表型。
J Clin Immunol. 2015 Jul;35(5):449-53. doi: 10.1007/s10875-015-0174-0. Epub 2015 Jun 17.
4
Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases.原发性免疫缺陷易导致 EBV 驱动的血液系统疾病。
Br J Haematol. 2013 Sep;162(5):573-86. doi: 10.1111/bjh.12422. Epub 2013 Jun 11.
5
A reversion of an IL2RG mutation in combined immunodeficiency providing competitive advantage to the majority of CD8+ T cells.IL2RG 突变的回复为联合免疫缺陷提供了对大多数 CD8+T 细胞的竞争优势。
Haematologica. 2013 Jul;98(7):1030-8. doi: 10.3324/haematol.2012.077511. Epub 2013 Feb 12.
6
Multiple reversions of an IL2RG mutation restore T cell function in an X-linked severe combined immunodeficiency patient.IL2RG 基因突变的多次回复恢复了 X 连锁严重联合免疫缺陷患者的 T 细胞功能。
J Clin Immunol. 2012 Aug;32(4):690-7. doi: 10.1007/s10875-012-9684-1. Epub 2012 Mar 30.
7
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.一名患有X连锁严重联合免疫缺陷症患者体细胞回复突变的临床和免疫学后果。
Blood. 2008 Nov 15;112(10):4090-7. doi: 10.1182/blood-2008-04-153361. Epub 2008 Aug 26.
8
Successful treatment of lymphoproliferative disease complicating primary immunodeficiency/immunodysregulatory disorders with reduced-intensity allogeneic stem-cell transplantation.采用减低强度的异基因干细胞移植成功治疗并发原发性免疫缺陷/免疫调节异常疾病的淋巴增殖性疾病。
Blood. 2007 Sep 15;110(6):2209-14. doi: 10.1182/blood-2006-12-062174. Epub 2007 May 14.
9
Lymphoproliferative disorders in children with primary immunodeficiencies: immunological status may be more predictive of the outcome than other criteria.原发性免疫缺陷患儿的淋巴增殖性疾病：免疫状态可能比其他标准更能预测预后。
Histopathology. 2001 Feb;38(2):146-59. doi: 10.1046/j.1365-2559.2001.01039.x.
10
Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.由于T细胞中遗传缺陷可能发生自发逆转导致的非典型X连锁严重联合免疫缺陷。
N Engl J Med. 1996 Nov 21;335(21):1563-7. doi: 10.1056/NEJM199611213352104.