Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
J Clin Immunol
; 35(2): 112-8, 2015 Feb.
Article
in En
| MEDLINE
| ID: mdl-25504528
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.
Full text:
1
Database:
MEDLINE
Main subject:
Leukoencephalopathy, Progressive Multifocal
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Cation Transport Proteins
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X-Linked Combined Immunodeficiency Diseases
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Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Humans
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Male
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Middle aged
Language:
En
Journal:
J Clin Immunol
Year:
2015
Type:
Article