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The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations.

作者信息

Hoyos-Bachiloglu Rodrigo, Concha Sara, Sepúlveda Pablo, Campos Roberto, Perez-Mateluna Guillermo, King Alejandra, Zuñiga Pamela

机构信息

Department of Pediatric Infectious Diseases and Immunology, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, 8th floor, 8330077, Santiago, Chile.

Hematology Unit, Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago, Chile.

出版信息

J Clin Immunol. 2020 Feb;40(2):415-417. doi: 10.1007/s10875-020-00746-1. Epub 2020 Jan 28.

DOI:10.1007/s10875-020-00746-1
PMID:31993868
Abstract
摘要

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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.
2
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.
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4
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.
5
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.
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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。
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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。
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A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.一种针对 XMEN 疾病患者的镁补充剂的双盲、安慰剂对照、交叉研究。
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HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.

本文引用的文献

1
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.糖基化缺陷和多系统异常是 XMEN 疾病原发性免疫缺陷的特征。
J Clin Invest. 2020 Jan 2;130(1):507-522. doi: 10.1172/JCI131116.
2
Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered.XMEN的成功骨髓移植：发现出血风险
J Clin Immunol. 2019 Jan;39(1):1-3. doi: 10.1007/s10875-018-0573-0. Epub 2018 Nov 23.
3
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
HLH 和复发性 EBV 淋巴瘤作为 MAGT1 缺乏症的首发表现：疾病谱不断扩大的系统评价。
J Clin Immunol. 2024 Jun 19;44(7):153. doi: 10.1007/s10875-024-01749-y.
4
Adult-onset neurodegeneration in XMEN disease.X 连锁 Menkes 神经性无铜症的成人发病型神经退行性变。
J Neuroimmunol. 2024 Jan 15;386:578251. doi: 10.1016/j.jneuroim.2023.578251. Epub 2023 Nov 24.
5
CD5 B-Cell Predominant Primary Immunodeficiency: Part of the Spectrum of Deficiency.CD5+B细胞为主的原发性免疫缺陷：免疫缺陷谱系的一部分
Ther Adv Allergy Rhinol. 2023 Sep 11;14:27534030231199675. doi: 10.1177/27534030231199675. eCollection 2023 Jan-Dec.
6
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.鉴定出一种新型 MAGT1 突变，支持 XMEN 疾病的诊断。
Genes Immun. 2022 Apr;23(2):66-72. doi: 10.1038/s41435-022-00166-8. Epub 2022 Mar 9.
7
Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.六例中国儿科患者中XMEN疾病谱系的进一步描述
Front Genet. 2022 Jan 25;13:768000. doi: 10.3389/fgene.2022.768000. eCollection 2022.
8
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.原发性免疫调节紊乱伴自身免疫性淋巴增生综合征样表型：免疫评估、早期诊断和治疗。
Front Immunol. 2021 Aug 10;12:671755. doi: 10.3389/fimmu.2021.671755. eCollection 2021.
9
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.
10
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.
一名患有经典型卡波西肉瘤、CD4淋巴细胞减少症和EB病毒感染患者的MAGT1基因大片段缺失
J Clin Immunol. 2017 Jan;37(1):32-35. doi: 10.1007/s10875-016-0341-y. Epub 2016 Oct 21.
4
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.
5
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.