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Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Curr+Opin+Pediatr 2014 ; 26 (6): 713-9 Nephropedia Template TP
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XMEN DISEASE: A COMBINED IMMUNE DEFICIENCY WITH MAGNESIUM DEFECT #MMPMID25313976
Ravell J; Chaigne-Delalande B; Lenardo M
Curr Opin Pediatr 2014[Dec]; 26 (6): 713-9 PMID25313976show ga
Purpose of review: To describe the role of the magnesium transporter 1 (MAGT1) in the pathogenesis of ?X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia? (XMEN) disease and its clinical implications. Recent findings: The magnesium transporter protein MAGT1 participates in intracellular Mg2+ homeostasis and facilitates a transient Mg2+ influx induced by activation of the T cell receptor (TCR). Loss-of-function mutations in MAGT1 cause an immunodeficiency named XMEN syndrome characterized by CD4 lymphopenia, chronic EBV infection, and EBV-related lymphoproliferative disorders. Patients with XMEN disease have impaired T cell activation and decreased cytolytic function of natural killer (NK) and CD8+ T cells due to decreased expression of the natural killer stimulatory receptor natural-killer group 2, member D (NKG2D). Patients may have defective specific antibody responses secondary to T cell dysfunction, but B cells have not been shown to be directly affected by mutations in MAGT1. Summary: XMEN disease has revealed a novel role for free intracellular magnesium in the immune system. Further understanding of the MAGT1 signaling pathway may lead to new diagnostic and therapeutic approaches.