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Journal article

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 cyto...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1007/s10875-014-0116-2

Authors


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National Institute of Allergy and Infectious Diseases More from this funder
Publisher:
Springer US Publisher's website
Journal:
Journal of Clinical Immunology Journal website
Volume:
35
Issue:
2
Pages:
112-118
Publication date:
2014-12-05
DOI:
EISSN:
1573-2592
ISSN:
0271-9142
URN:
uuid:4f1bb0c5-2b21-46cb-89c2-de0c67139d28
Source identifiers:
500834
Local pid:
pubs:500834

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