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XMEN disease is a rare genetic disorder of the immune system that illustrates the role of glycosylation in the function of the immune system. XMEN stands for “X-linked MAGT1 deficiency with increased susceptibility to Epstein–Barr virus (EBV) infection and N-linked glycosylation defect.” The disease is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Investigators in the laboratory of Dr. Michael Lenardo, National Institute of Allergy and Infectious Diseases at the National Institutes of Health first described this condition in 2011.

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  • XMEN disease (en)
  • XMEN病 (zh)
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  • XMEN disease is a rare genetic disorder of the immune system that illustrates the role of glycosylation in the function of the immune system. XMEN stands for “X-linked MAGT1 deficiency with increased susceptibility to Epstein–Barr virus (EBV) infection and N-linked glycosylation defect.” The disease is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Investigators in the laboratory of Dr. Michael Lenardo, National Institute of Allergy and Infectious Diseases at the National Institutes of Health first described this condition in 2011. (en)
  • 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。 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。鎂離子傳遞蛋白對體內鎂離子的平衡扮演重要角色。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。 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。 (zh)
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  • XMEN disease (en)
name
  • XMEN disease (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/X-linked_recessive.svg
  • http://commons.wikimedia.org/wiki/Special:FilePath/XMEN_Clinical_Manifestations.jpg
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ICD
  • D81.8 (en)
OMIM
Orphanet
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  • X-linked recessive is the manner in which this condition is inherited (en)
synonyms
  • Combined immunodeficiency due to MAGT1 deficiency (en)
has abstract
  • XMEN disease is a rare genetic disorder of the immune system that illustrates the role of glycosylation in the function of the immune system. XMEN stands for “X-linked MAGT1 deficiency with increased susceptibility to Epstein–Barr virus (EBV) infection and N-linked glycosylation defect.” The disease is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. Investigators in the laboratory of Dr. Michael Lenardo, National Institute of Allergy and Infectious Diseases at the National Institutes of Health first described this condition in 2011. (en)
  • 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。 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。鎂離子傳遞蛋白對體內鎂離子的平衡扮演重要角色。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。 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。 (zh)
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ICD10
  • D81.8
OMIM id
ORPHA
  • 317476
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