Abstract：
Magnesium transporter 1 (MAGT1) gene loss-of-function variants lead to X-linked MAGT1 deficiency with increased susceptibility to EBV infection and N-glycosylation defect (XMEN), a condition with a variety of clinical and immunological effects. In addition, MAGT1 deficiency has been classified as a congenital disorder of glycosylation (CDG) due to its unique role in glycosylation of multiple substrates including NKG2D, necessary for viral protection. Due to the predisposition for EBV, this etiology has been linked with hemophagocytic lymphohistiocytosis (HLH), however only limited literature exists. Here we present a complex case with HLH and EBV-driven classic Hodgkin lymphoma (cHL) as the presenting manifestation of underlying immune defect. However, the patient\'s underlying immunodeficiency was not identified until his second recurrence of Hodgkin disease, recurrent episodes of Herpes Zoster, and after he had undergone autologous hematopoietic stem cell transplant (HSCT) for refractory Hodgkin lymphoma. This rare presentation of HLH and recurrent lymphomas without some of the classical immune deficiency manifestations of MAGT1 deficiency led us to review the literature for similar presentations and to report the evolving spectrum of disease in published literature. Our systematic review showcased that MAGT1 predisposes to multiple viruses (including EBV) and adds risk of viral-driven neoplasia. The roles of MAGT1 in the immune system and glycosylation were highlighted through the multiple organ dysfunction showcased by the previously validated Immune Deficiency and Dysregulation Activity (IDDA2.1) score and CDG-specific Nijmegen Pediatric CDG Rating Scale (NPCRS) score for the patient cohort in the systematic review.
摘要：
镁转运蛋白1（MAGT1）基因功能缺失变异导致X连锁MAGT1缺乏，对EBV感染和N-糖基化缺陷（XMEN）的易感性增加，具有多种临床和免疫学作用的病症。此外,MAGT1缺乏症由于其在包括NKG2D在内的多种底物糖基化中的独特作用而被归类为先天性糖基化障碍（CDG）。病毒保护所必需的。由于EBV的倾向，这种病因与噬血细胞淋巴组织细胞增多症（HLH）有关，然而，只有有限的文献存在。在这里，我们介绍了HLH和EBV驱动的经典霍奇金淋巴瘤（cHL）作为潜在免疫缺陷的表现的复杂病例。然而,患者的潜在免疫缺陷直到他第二次复发的霍奇金病，带状疱疹的反复发作，在他接受自体造血干细胞移植（HSCT）治疗难治性霍奇金淋巴瘤后。HLH和复发性淋巴瘤的这种罕见表现，没有MAGT1缺乏症的某些经典免疫缺陷表现，这使我们回顾了类似表现的文献，并在已发表的文献中报告了不断发展的疾病谱。我们的系统评价表明，MAGT1易患多种病毒（包括EBV），并增加了病毒驱动的肿瘤形成的风险。MAGT1在免疫系统和糖基化中的作用通过先前验证的免疫缺陷和调节异常活性（IDDA2.1）评分和CDG特异性Nijmegen儿科CDG评定量表（NPCRS）评分显示的多器官功能障碍来强调系统评价中的患者队列。
