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2014 ; 123
(14
): 2148-52
Nephropedia Template TP
gab.com Text
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English Wikipedia
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of
immunity against Epstein-Barr virus
#MMPMID24550228
Li FY
; Chaigne-Delalande B
; Su H
; Uzel G
; Matthews H
; Lenardo MJ
Blood
2014[Apr]; 123
(14
): 2148-52
PMID24550228
show ga
Epstein-Barr virus (EBV) is an oncogenic gammaherpesvirus that infects and
persists in 95% of adults worldwide and has the potential to cause fatal disease,
especially lymphoma, in immunocompromised hosts. Primary immunodeficiencies
(PIDs) that predispose to EBV-associated malignancies have provided novel
insights into the molecular mechanisms of immune defense against EBV. We have
recently characterized a novel PID now named "X-linked immunodeficiency with
magnesium defect, EBV infection, and neoplasia" (XMEN) disease characterized by
loss-of-function mutations in the gene encoding magnesium transporter 1 (MAGT1),
chronic high-level EBV with increased EBV-infected B cells, and heightened
susceptibility to EBV-associated lymphomas. The genetic etiology of XMEN disease
has revealed an unexpected quantitative role for intracellular free magnesium in
immune functions and has led to novel diagnostic and therapeutic strategies.
Here, we review the clinical presentation, genetic mutation spectrum, molecular
mechanisms of pathogenesis, and diagnostic and therapeutic considerations for
this previously unrecognized disease.