XMEN病
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XMEN病是一種罕見遺傳性免疫疾病。英文病名簡寫XMEN，其全名為「X染色體性聯免疫缺乏合併鎂缺乏(M)、EB病毒(E)、腫瘤(N)」。疾病特徵為CD4+淋巴球不足、嚴重慢性病毒感染、以及T淋巴球活化之缺陷。美國衛生研究院免疫感染研究所的Michael Lenardo團隊在2011年首度報告此疾病。[1][2][3][4]
因為人類X性染色體上的基因MAGT1變異，導致該基因所表現的鎂離子傳遞蛋白功能缺陷，導致XMEN[2]。鎂離子傳遞蛋白對體內鎂離子的平衡扮演重要角色。[5]由於該基因位於X染色體上，因此該基因缺陷為性聯遺傳模式。不過，環境因子與其他基因會影響疾病嚴重度。[3]
XMEN病人一般會具有慢性的EB病毒感染，CD4+淋巴球減少、B淋巴球量提高、以及中性球輕微不足的現象。臨床上會依照病人的症狀予以治療。鎂離子補充可能是個治療方向，但目前對於藉此方法治療XMEN或預防淋巴癌發生的效果尚未知。美國國家衛生研究院正在進行診斷與治療此遺傳疾病的方法。[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）.
