About: XMEN disease

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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.

Attributes	Values
rdf:type	Thing Disease yago:WikicatX-linkedRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:GeneticDisease114151139 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:WikicatGeneticDisorders yago:WikicatImmuneSystemDisorders disease yago:State100024720
rdfs:label	XMEN disease (en) XMEN病 (zh)
rdfs:comment	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)
foaf:name	XMEN disease (en)
name	XMEN disease (en)
foaf:depiction
dcterms:subject	Epstein–Barr virus–associated diseases Genetic diseases and disorders Immune system disorders X-linked recessive disorders
Wikipage page ID	42009351 (xsd:integer)
Wikipage revision ID	1113495724 (xsd:integer)
Link from a Wikipage to another Wikipage	Genetic disorder Genotype Oligosaccharyltransferase Loss-of-function mutation Epiglottitis Gene Conserved sequence Epstein–Barr virus Lymphoma Lymphopenia Deletion (genetics) Epstein–Barr virus–associated diseases Amino acid Genetic diseases and disorders Exons Otitis media Hematopoietic Asymptomatic B cell Pertussis Immune system disorders X-linked recessive disorders X chromosome Mitogen Phenotype Pneumonia Splenomegaly Cytopenias Immunoglobulin National Institute of Allergy and Infectious Diseases National Institutes of Health Autoimmune RP11-217H1.1 Sinusitis Neutropenia Immune system Immunodeficiency NKG2D Upper respiratory infections Magnesium threonate Missense Thymic Hematopoietic stem cell transplant X-linked X chromosome inactivation
sameAs	XMEN disease XMEN disease XMEN disease XMEN disease XMEN disease
dbp:wikiPageUsesTemplate	dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Primary_sources dbt:Reflist
thumbnail	wiki-commons:Special:FilePath/X-linked_recessive.svg?width=300
ICD	D81.8 (en)
OMIM	300853 (xsd:integer)
Orphanet	317476 (xsd:integer)
caption	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)
prov:wasDerivedFrom	wikipedia-en:XMEN_disease?oldid=1113495724&ns=0
page length (characters) of wiki page	12239 (xsd:nonNegativeInteger)
ICD10	D81.8
OMIM id	300853 (xsd:integer)
ORPHA	317476
foaf:isPrimaryTopicOf	wikipedia-en:XMEN_disease

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