Department of Hematology, National Children's Medical Center Children's Hospital of Fudan University, Shanghai, China.
J Pediatr Hematol Oncol. 2024 Oct 1;46(7):356-363. doi: 10.1097/MPH.0000000000002940. Epub 2024 Aug 27.
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.
X 连锁免疫缺陷伴镁缺乏、EB 病毒（EBV）感染和肿瘤（XMEN）是一种极其罕见的遗传性免疫缺陷病（IEI），由 X 连锁隐性遗传和 MAGT1 基因的功能丧失突变引起，导致镁离子通道缺陷。本文报道了 2 例以前未报道过的与 XMEN 相关的全身性 EBV 阳性 T 细胞淋巴瘤（SETLC）。对其家族的全外显子组测序（WES）揭示了以前未报道过的 MAGT1 基因突变（c.77T>C，p.I26T；c.956-957del：p.Ser319Tyrfs），这些突变从母亲那里遗传而来。这些突变扩展了 XMEN 疾病的基因突变谱。强调了 MAGT1 突变的基因检测在 SETLC 初始诊断中的重要性。我们还对这种罕见的 IEI 的文献进行了回顾。
