XMEN病
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XMEN病是一种罕见遗传性免疫疾病。英文病名简写XMEN，其全名为“X染色体性联免疫缺乏合并镁缺乏(M)、EB病毒(E)、肿瘤(N)”。疾病特征为CD4+淋巴球不足、严重慢性病毒感染、以及T淋巴球活化之缺陷。美国卫生研究院免疫感染研究所的Michael Lenardo团队在2011年首度报告此疾病。[1][2][3][4]
因为人类X性染色体上的基因MAGT1变异，导致该基因所表现的镁离子传递蛋白功能缺陷，导致XMEN[2]。镁离子传递蛋白对体内镁离子的平衡扮演重要角色。[5]由于该基因位于X染色体上，因此该基因缺陷为性联遗传模式。不过，环境因子与其他基因会影响疾病严重度。[3]
XMEN病人一般会具有慢性的EB病毒感染，CD4+淋巴球减少、B淋巴球量提高、以及中性球轻微不足的现象。临床上会依照病人的症状予以治疗。镁离子补充可能是个治疗方向，但目前对于借此方法治疗XMEN或预防淋巴癌发生的效果尚未知。美国国家卫生研究院正在进行诊断与治疗此遗传疾病的方法。[6][7]
参考资料
[编辑]- ^ NIH/NIAID. Scientists Identify the Genetic Mutation Causing "XMEN" Disease. July 11, 2013 [2017-04-13]. （原始内容存档于2017-07-05）.
- ^ 2.0 2.1 Li FY; Chaigne-Delalande, B; Kanellopoulou, C; Davis, JC; Matthews, HF; Douek, DC; Cohen, JI; Uzel, G; Su, HC; Lenardo, MJ. Second messenger role for Mg(2+) revealed by human T-cell immunodeficiency. Nature. 2011, 475: 471–476. PMC 3159560
. PMID 21796205. doi:10.1038/nature10246.
- ^ 3.0 3.1 Chaigne-Delalande B; Li, FY; O'Connor, GM; Lukacs, MJ; Jiang, P; Zheng, L; Shatzer, A; Biancalana, M; Pittaluga, S; Matthews, HF; Jancel, TJ; Bleesing, JJ; Marsh, RA; Kuijpers, TW; Nichols, KE; Lucas, CL; Nagpal, S; Mehmet, H; Su, HC; Cohen, JI; Uzel, G; Lenardo, MJ. Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science. 2013, 341 (6142): 186–191. PMC 3894782 . PMID 23846901. doi:10.1126/science.1240094.
- ^ Li FY; Chaigne-Delalande, B; Su, HC; Uzel, G; Matthews, HF; Lenardo, MJ. XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus. Blood. 2014, 123 (14): 2148–52. PMID 24550228. doi:10.1182/blood-2013-11-538686.
- ^ Zhou, Hao; Clapham, David E. Mammalian MAGT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development. Proceedings of the National Academy of Sciences of the United States of America. 2009, 106 (37): 15751–15755. PMC 2732712 . PMID 19717468. doi:10.1073/pnas.0908332106.
- ^ Screening Protocol for Genetic Diseases of Lymphocyte Homeostasis and Programmed Cell Death. ClinicalTrials.gov. U.S. National Institutes of Health. May 2015 [2017-04-13]. NCT00246857. （原始内容存档于2021-04-02）.
- ^ Genetic Analysis of Immune Disorders. ClinicalTrials.gov. U.S. National Institutes of Health. May 2015 [2017-04-13]. NCT00001467. （原始内容存档于2021-05-05）.
