X 连锁免疫缺陷伴镁缺陷、EB 病毒 (EBV) 感染和肿瘤 (XMEN) 是一种极其罕见的先天性免疫缺陷 (IEI)，由 X 连锁隐性遗传和 MAGT1 功能丧失突变引起基因，导致镁离子通道缺陷。本文报告2例与XMEN相关的系统性EBV阳性儿童T细胞淋巴瘤（SETLC）病例，此前未见报道。他们家族的全外显子组测序 (WES) 显示，之前未报告的 MAGT1 基因突变（c.77T>C，p.I26T；c.956-957del：p.Ser319Tyrfs）遗传自他们的母亲。这些突变扩大了 XMEN 疾病的基因突变谱。强调了 MAGT1 突变基因检测在 SETLC 初始诊断中的重要性。我们还回顾了有关这种不常见的 IEI 的文献。版权所有 © 2024 Wolters Kluwer Health, Inc. 保留所有权利。

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN) is an extremely rare inborn error of immunity (IEI) caused by X-linked recessive inheritance and loss-of-function mutations in the MAGT1 gene, resulting in magnesium ion channel defects. This article reports 2 cases of systemic EBV-positive T-cell Lymphoma of childhood (SETLC) associated with XMEN, which have not been reported before. Whole exome sequencing (WES) in their family revealed previously unreported MAGT1 gene mutations (c.77T>C, p.I26T; c.956-957del: p.Ser319Tyrfs) inherited from their mothers. These mutations expand the spectrum of gene mutations in XMEN disease. The importance of genetic testing for MAGT1 mutations in the initial diagnosis of SETLC was emphasized. We also review the literature on this uncommon IEI.Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.