Article
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
Journal of clinical immunology - 1 Feb 2015
Dhalla Fatima, Murray Sarah, Sadler Ross, Chaigne-Delalande Benjamin, Sadaoka Tomohiko, Soilleux Elizabeth, Uzel Gulbu, Miller Joanne, Collins Graham Peter, Hatton Christian Simon Ross, Bhole Malini, Ferry Berne, Chapel Helen M, Cohen Jeffrey I, Patel Smita Y
Abstract excerpt
XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor...
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