KEGG   DISEASE: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
Entry
H03075                      Disease                                
Name
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
Description
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) is a primary immunodeficiency caused by mutations in MAGT1 and characterized by chronic Epstein-Barr virus (EBV) infection, EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia. MAGT1 encodes magnesium transporter 1, which plays a critical role in maintaining basal intracellular free magnesium levels. It has been reported that MAGT1 regulates T-cell activation through magnesium influx across the plasma membrane.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H03075  X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
Gene
MAGT1 [HSA:84061] [KO:K19478]
Other DBs
ICD-11: 4A01.1Y
OMIM: 300853
Reference
PMID:23846901
  Authors
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
  Title
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.
  Journal
Science 341:186-91 (2013)
DOI:10.1126/science.1240094
Reference
PMID:25504528
  Authors
Dhalla F, Murray S, Sadler R, Chaigne-Delalande B, Sadaoka T, Soilleux E, Uzel G, Miller J, Collins GP, Hatton CS, Bhole M, Ferry B, Chapel HM, Cohen JI, Patel SY
  Title
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
  Journal
J Clin Immunol 35:112-8 (2015)
DOI:10.1007/s10875-014-0116-2
Reference
PMID:21796205
  Authors
Li FY, Chaigne-Delalande B, Kanellopoulou C, Davis JC, Matthews HF, Douek DC, Cohen JI, Uzel G, Su HC, Lenardo MJ
  Title
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
  Journal
Nature 475:471-6 (2011)
DOI:10.1038/nature10246
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