Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease
Dhalla F., Murray S., Sadler R., Chaigne-Delalande B., Sadaoka T., Soilleux E., Uzel G., Miller J., Collins GP., Hatton CSR., Bhole M., Ferry B., Chapel HM., Cohen JI., Patel SY.
© 2014, Springer Science+Business Media New York. 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 . Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor signalling , and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity . 7 patients have been described in the literature; the oldest died at 45 years and was diagnosed posthumously [1–3]. We present the case of a 58-year-old Caucasian gentleman with a novel mutation in MAGT1 with the aim of adding to the phenotype of this newly described disease by detailing his clinical course over more than 20 years.