title: Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
abstract: 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 signalling [1], and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity [2]. 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.
authors.affiliation: Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom, fatima.dhalla@doctors.org.uk.
authors.forename: Fatima
authors.initials: F
authors.lastname: Dhalla
authors.forename: Sarah
authors.initials: S
authors.lastname: Murray
authors.forename: Ross
authors.initials: R
authors.lastname: Sadler
authors.forename: Benjamin
authors.initials: B
authors.lastname: Chaigne-Delalande
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Sadaoka
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Soilleux
authors.forename: Gulbu
authors.initials: G
authors.lastname: Uzel
authors.forename: Joanne
authors.initials: J
authors.lastname: Miller
authors.forename: Graham Peter
authors.initials: GP
authors.lastname: Collins
authors.forename: Christian Simon Ross
authors.initials: CS
authors.lastname: Hatton
authors.forename: Malini
authors.initials: M
authors.lastname: Bhole
authors.forename: Berne
authors.initials: B
authors.lastname: Ferry
authors.forename: Helen M
authors.initials: HM
authors.lastname: Chapel
authors.forename: Jeffrey I
authors.initials: JI
authors.lastname: Cohen
authors.forename: Smita Y
authors.initials: SY
authors.lastname: Patel
mesh_terms: D001921:Brain / Q000473:pathology; D027682:Cation Transport Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D019788:Fluorodeoxyglucose F18; D006801:Humans; D016130:Immunophenotyping; D007968:Leukoencephalopathy, Progressive Multifocal / Q000175:diagnosis* / Q000209:etiology*; D008198:Lymph Nodes / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D049268:Positron-Emission Tomography; D016176:T-Lymphocyte Subsets / Q000276:immunology / Q000378:metabolism; D014057:Tomography, X-Ray Computed; D053632:X-Linked Combined Immunodeficiency Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics*
chemical_list: D027682:Cation Transport Proteins; C509698:MagT1 protein, human; D019788:Fluorodeoxyglucose F18