Dhalla Fatima, Murray Sarah, Sadler Ross, Chaigne-Delalande Benjamin, Sadaoka Tomohiko, Soilleux Elizabeth, Uzel Gulbu, Miller Joanne, Collins Graham Peter, Hatton Christian Simon Ross, Bhole Malini, Ferry Berne, Chapel Helen M, Cohen Jeffrey I, Patel Smita Y
Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom,
J Clin Immunol. 2015 Feb;35(2):112-8. doi: 10.1007/s10875-014-0116-2. Epub 2014 Dec 13.
XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor signalling [1], and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity [2]. 7 patients have been described in the literature; the oldest died at 45 years and was diagnosed posthumously [1-3]. We present the case of a 58-year-old Caucasian gentleman with a novel mutation in MAGT1 with the aim of adding to the phenotype of this newly described disease by detailing his clinical course over more than 20 years.
XMEN病（X连锁免疫缺陷伴镁缺乏、爱泼斯坦-巴尔病毒感染和肿瘤形成）是一种由MAGT1基因突变引起的新型原发性免疫缺陷病，其特征为慢性爱泼斯坦-巴尔病毒（EBV）感染、EBV驱动的淋巴瘤、CD4 T细胞淋巴细胞减少和免疫球蛋白异常血症[1]。功能研究表明，镁作为第二信使在T细胞受体信号传导中发挥作用[1]，并参与NKG2D表达，进而影响自然杀伤细胞（NK）和CD8 T细胞的细胞毒性[2]。文献中已报道了7例患者；年龄最大的患者45岁死亡，死后才得以确诊[1-3]。我们报告了一例58岁的白种男性患者，其MAGT1基因存在新的突变，旨在通过详细描述其20多年的临床病程，丰富这种新描述疾病的表型。
