Published in:
01-02-2015 | Astute Clinician Report
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease
Authors:
Fatima Dhalla, Sarah Murray, Ross Sadler, Benjamin Chaigne-Delalande, Tomohiko Sadaoka, Elizabeth Soilleux, Gulbu Uzel, Joanne Miller, Graham Peter Collins, Christian Simon Ross Hatton, Malini Bhole, Berne Ferry, Helen M. Chapel, Jeffrey I. Cohen, Smita Y. Patel
Published in:
Journal of Clinical Immunology
|
Issue 2/2015
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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.