Journal of Clinical Immunology

, Volume 35, Issue 2, pp 112–118

Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease

  • 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
Astute Clinician Report

DOI: 10.1007/s10875-014-0116-2

Cite this article as:
Dhalla, F., Murray, S., Sadler, R. et al. J Clin Immunol (2015) 35: 112. doi:10.1007/s10875-014-0116-2

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, 2, 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.

Keywords

XMEN Disease MAGT1 Epstein-Barr virus (EBV) progressive multifocal leucoencephalopathy (PML) 

Supplementary material

10875_2014_116_MOESM1_ESM.docx (196 kb)
ESM 1(DOCX 195 kb)

Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Fatima Dhalla
    • 1
    • 2
  • Sarah Murray
    • 2
  • Ross Sadler
    • 3
  • Benjamin Chaigne-Delalande
    • 4
  • Tomohiko Sadaoka
    • 5
  • Elizabeth Soilleux
    • 6
  • Gulbu Uzel
    • 7
  • Joanne Miller
    • 1
    • 2
  • Graham Peter Collins
    • 8
  • Christian Simon Ross Hatton
    • 8
  • Malini Bhole
    • 9
  • Berne Ferry
    • 3
  • Helen M. Chapel
    • 1
    • 2
  • Jeffrey I. Cohen
    • 5
  • Smita Y. Patel
    • 1
    • 2
  1. 1.Nuffield Department of MedicineUniversity of OxfordOxfordUnited Kingdom
  2. 2.Department of Clinical ImmunologyJohn Radcliffe HospitalOxfordUnited Kingdom
  3. 3.Department of Clinical Laboratory ImmunologyChurchill HospitalOxfordEngland
  4. 4.Molecular Development Section, Lymphocyte Molecular Genetics Unit, Laboratory of Immunology, National Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesdaMaryland
  5. 5.Laboratory of Infectious Diseases, National Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesdaMaryland
  6. 6.Nuffield Department of Clinical Laboratory SciencesUniversity of OxfordOxfordUnited Kingdom
  7. 7.Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious DiseasesNational Institutes of HealthBethesdaMaryland
  8. 8.Department of HematologyChurchill HospitalOxfordUnited Kingdom
  9. 9.Department of Clinical ImmunologyRussells Hall HospitalDudleyUnited Kingdom