Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).
作者信息
Li Feng-Yen, Chaigne-Delalande Benjamin, Rao V Koneti, Zhang Yu, Matthews Helen, Kuijpers Taco Tw, Su Helen, Uzel Gulbu, Lenardo Michael J
机构信息
Molecular Development of the Immune System Section, Clinical Genomics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Human Immunological Diseases Unit, Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
出版信息
Eur J Hum Genet. 2015 Jun;23(6):889-. doi: 10.1038/ejhg.2014.179. Epub 2014 Sep 10.
Abstract
摘要
相似文献
1
Clinical utility gene card for: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN).X连锁免疫缺陷伴镁缺乏、爱泼斯坦-巴尔病毒感染和肿瘤（XMEN）的临床应用基因卡
Eur J Hum Genet. 2015 Jun;23(6):889-. doi: 10.1038/ejhg.2014.179. Epub 2014 Sep 10.
2
The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations.X 连锁鱼鳞病的多样面貌：两例携带新突变患者的报告
J Clin Immunol. 2020 Feb;40(2):415-417. doi: 10.1007/s10875-020-00746-1. Epub 2020 Jan 28.
3
Cutaneous T-cell lymphoma as a unique presenting malignancy in X-linked magnesium defect with EBV infection and neoplasia (XMEN) disease.皮肤T细胞淋巴瘤作为X连锁镁缺乏伴EB病毒感染和肿瘤形成（XMEN）疾病中一种独特的首发恶性肿瘤。
Clin Immunol. 2021 May;226:108722. doi: 10.1016/j.clim.2021.108722. Epub 2021 Apr 6.
4
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.X 战警病：一种新的原发性免疫缺陷病，影响镁离子调节针对 Epstein-Barr 病毒的免疫。
Blood. 2014 Apr 3;123(14):2148-52. doi: 10.1182/blood-2013-11-538686. Epub 2014 Feb 18.
5
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect.伴有镁缺乏、爱泼斯坦-巴尔病毒感染和肿瘤形成的X连锁免疫缺陷病：一种伴有镁缺乏的联合免疫缺陷病。
Curr Opin Pediatr. 2014 Dec;26(6):713-9. doi: 10.1097/MOP.0000000000000156.
6
A case of XMEN syndrome presented with severe auto-immune disorders mimicking autoimmune lymphoproliferative disease.一例XMEN综合征患者表现出类似自身免疫性淋巴细胞增生性疾病的严重自身免疫性疾病。
Clin Immunol. 2015 Jul;159(1):58-62. doi: 10.1016/j.clim.2015.04.015. Epub 2015 May 6.
7
An Update on XMEN Disease.关于 XMEN 疾病的最新进展。
J Clin Immunol. 2020 Jul;40(5):671-681. doi: 10.1007/s10875-020-00790-x. Epub 2020 May 26.
8
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.XMEN 疾病的多样性：2 种新型变异的描述及淋巴细胞表型分析。
J Clin Immunol. 2020 Feb;40(2):299-309. doi: 10.1007/s10875-019-00732-2. Epub 2019 Dec 21.
9
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in linked glycosylation and expression of immune-response genes.镁转运蛋白 1（MAGT1）缺乏导致连接糖基化和免疫反应基因表达的选择性缺陷。
J Biol Chem. 2019 Sep 13;294(37):13638-13656. doi: 10.1074/jbc.RA119.008903. Epub 2019 Jul 23.
10
XMEN-associated Systemic EBV-positive T-cell Lymphoma of Childhood: Report of Two Cases and Literature Review.儿童 X 连锁系统 EBV 阳性 T 细胞淋巴瘤：两例报告及文献复习。
J Pediatr Hematol Oncol. 2024 Oct 1;46(7):356-363. doi: 10.1097/MPH.0000000000002940. Epub 2024 Aug 27.
引用本文的文献
1
Prevalence of pathogenic variants of inborn errors of immunity in critically ill children admitted to the pediatric intensive care unit for sepsis: A Moroccan cohort study.因脓毒症入住儿科重症监护病房的危重症儿童遗传性免疫缺陷病致病变异的患病率：一项摩洛哥队列研究。
Tunis Med. 2025 Jan 5;103(1):93-97. doi: 10.62438/tunismed.v103i1.5182.
2
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in .病例报告：与XMEN病相关的EBV阳性结外边缘区淋巴瘤，由一种新型半合子突变引起。
Front Oncol. 2021 Mar 18;11:653266. doi: 10.3389/fonc.2021.653266. eCollection 2021.
3
Human inborn errors of immunity to herpes viruses.人类疱疹病毒先天性免疫缺陷病。
Curr Opin Immunol. 2020 Feb;62:106-122. doi: 10.1016/j.coi.2020.01.004. Epub 2020 Jan 31.
本文引用的文献
1
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.X 战警病：一种新的原发性免疫缺陷病，影响镁离子调节针对 Epstein-Barr 病毒的免疫。
Blood. 2014 Apr 3;123(14):2148-52. doi: 10.1182/blood-2013-11-538686. Epub 2014 Feb 18.
2
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.镁离子通过 NKG2D 调节慢性 EBV 感染中 NK 和 CD8 T 细胞的细胞毒性功能。
Science. 2013 Jul 12;341(6142):186-91. doi: 10.1126/science.1240094.
3
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.
4
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.Mg2+ 作为第二信使在人类 T 细胞免疫缺陷中的作用
Nature. 2011 Jul 27;475(7357):471-6. doi: 10.1038/nature10246.
5
Disulphide-isomerase-enabled shedding of tumour-associated NKG2D ligands.二硫键异构酶促进肿瘤相关NKG2D配体的脱落
Nature. 2007 May 24;447(7143):482-6. doi: 10.1038/nature05768. Epub 2007 May 9.
Zotero 插件