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XMEN disease

T Y He, Y Xia, C G Li, C R Li, Z X Qi, J Yang
Objective: To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN). Methods: Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene'or'XMEN'. Results: The proband, a 2-year-eight-month old boy, was admitted due to 'Urine with deepened color for two days and yellow stained skin for one day'...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
Ravell Juan, Isaac Otim, Hadijah Nabalende, Ismail D Legason, Steven J Reynolds, Martin D Ogwang, Christopher M Ndugwa, Vickie Marshall, Denise Whitby, James J Goedert, Eric A Engels, Kishor Bhatia, Michael J Lenardo, Sam M Mbulaiteye
BACKGROUND: Epstein-Barr virus (EBV) causes endemic Burkitt lymphoma (eBL). EBV control was improved by magnesium (Mg2+ ) supplementation in XMEN, an X-linked genetic disease associated with Mg2+ deficiency, high circulating EBV levels (viral loads), and EBV-related lymphomas. We, therefore, investigated the relationship between Mg2+ levels and EBV levels and eBL in Uganda. METHODS: Plasma Mg2+ was measured in 45 women with low or high circulating EBV levels, 40 pediatric eBL cases, and 79 healthy children...
February 2018: Cancer Epidemiology
Pandiarajan Vignesh, Amit Rawat, Surjit Singh
The genomic revolution in the past decade fuelled by breathtaking advances in sequencing technologies has defined several new genetic diseases of the immune system. Many of these newly characterized diseases are a result of defects in genes involved in immune regulation. The discovery of these diseases has opened a vista of new therapeutic possibilities. Immunomodulatory agents, a hitherto unexplored therapeutic option in primary immunodeficiency diseases have been tried in a host of these newly described maladies...
April 2017: Clinical Reviews in Allergy & Immunology
Michael Lenardo, Bernice Lo, Carrie L Lucas
Genomic DNA sequencing technologies have been one of the great advances of the 21st century, having decreased in cost by seven orders of magnitude and opening up new fields of investigation throughout research and clinical medicine. Genomics coupled with biochemical investigation has allowed the molecular definition of a growing number of new genetic diseases that reveal new concepts of immune regulation. Also, defining the genetic pathogenesis of these diseases has led to improved diagnosis, prognosis, genetic counseling, and, most importantly, new therapies...
May 20, 2016: Annual Review of Immunology
Valentina Trapani, Naomi Shomer, Evica Rajcan-Separovic
Disturbances in magnesium homeostasis, often linked to altered expression and/or function of magnesium channels, have been implicated in a plethora of diseases. This review focuses on magnesium transporter 1 (MAGT1), as recently described changes in this gene have further extended our understanding of the role of magnesium in human health and disease. The identification of genetic changes and their functional consequences in patients with immunodeficiency revealed that magnesium and MAGT1 are key molecular players for T cell-mediated immune responses...
June 2015: Magnesium Research: Official Organ of the International Society for the Development of Research on Magnesium
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
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]...
February 2015: Journal of Clinical Immunology
Juan Ravell, Benjamin Chaigne-Delalande, Michael Lenardo
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 the intracellular magnesium ion (Mg) homeostasis and facilitates a transient Mg influx induced by the activation of the T-cell receptor. Loss-of-function mutations in MAGT1 cause an immunodeficiency named 'XMEN syndrome', characterized by CD4 lymphopenia, chronic EBV infection, and EBV-related lymphoproliferative disorders...
December 2014: Current Opinion in Pediatrics
Feng-Yen Li, Benjamin Chaigne-Delalande, V Koneti Rao, Yu Zhang, Helen Matthews, Taco Tw Kuijpers, Helen Su, Gulbu Uzel, Michael J Lenardo
No abstract text is available yet for this article.
June 2015: European Journal of Human Genetics: EJHG
Feng-Yen Li, Benjamin Chaigne-Delalande, Helen Su, Gulbu Uzel, Helen Matthews, Michael J Lenardo
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...
April 3, 2014: Blood
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