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EDITORIAL
Erden Atilla
No abstract text is available yet for this article.
2024: Frontiers in Medicine
#2
Pieter F de Groot, Arjan J Kwakernaak, Ester M M van Leeuwen, Rosalina M L van Spaendonk, Evert-Jan Kooi, Daphne de Jong, Taco W Kuijpers, Josée M Zijlstra, Godelieve J de Bree
Here we present the case of a 28-year-old man with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. He presented with immune thrombocytopenia within 1 year after successful autologous hematopoietic stem cell transplantation for recurrent EBV-associated classical Hodgkin lymphoma (CHL). The combination of EBV- associated malignancy, autoimmunity, recurrent airway infections at young age and bronchiectasis, prompted immunological investigation for an inborn error of immunity (IEI)...
2023: Frontiers in Medicine
#3
JOURNAL ARTICLE
Daniel Benavides, Anusha Ebrahim, Juan C Ravell, Michael Lenardo, William A Gahl, Camilo Toro
BACKGROUND: XMEN (X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV), and N-linked glycosylation defect) disease results from loss-of-function mutations in MAGT1, a protein that serves as a magnesium transporter and a subunit of the oligosaccharyltransferase (OST) complex. MAGT1 deficiency disrupts N-linked glycosylation, a critical regulator of immune function. XMEN results in recurrent EBV infections and a propensity for EBV-driven malignancies. Although XMEN is recognized as a systemic congenital disorder of glycosylation (CDG), its neurological involvement is rare and poorly characterized...
November 24, 2023: Journal of Neuroimmunology
#4
JOURNAL ARTICLE
Marija J Rowane, Benjamin C Stewart-Bates, Rayna J Doll, Howard J Meyerson, John S Venglarcik, Meghan Callahan, Lauren Fill, Remie Saab, Hans D Ochs, Robert W Hostoffer
BACKGROUND: Selective anti-polysaccharide antibody deficiency (SPAD) with CD5 B-cell predominance and autoimmune phenomena was identified in a male cohort first reported by Antall et al in 1999. The phenotypically likewise and genotypically identical X-linked immunodeficiency with magnesium defect, Epstein-Barr Virus infection, and neoplasia (XMEN) disease was defined as a novel primary immunodeficiency (PID) in 2011. Recent studies of the magnesium transporter 1 (MAGT1) gene mutation reveal glycosylation defects contributing to more phenotypic variance than the "XMEN" title pathologies...
2023: Ther Adv Allergy Rhinol
#5
JOURNAL ARTICLE
Alexandre Kauskot, Coralie Mallebranche, Arnaud Bruneel, François Fenaille, Jean Solarz, Toscane Viellard, Miao Feng, Christelle Repérant, Jean-Claude Bordet, Sophie Cholet, Cécile V Denis, Geneviève McCluskey, Sylvain Latour, Emmanuel Martin, Isabelle Pellier, Dominique Lasne, Delphine Borgel, Sven Kracker, Alban Ziegler, Marie Tuffigo, Benjamin Fournier, Charline Miot, Frédéric Adam
BACKGROUND: X-Linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) disease is a primary immunodeficiency due to loss-of-function mutations in the gene encoding for the magnesium transporter 1 (MAGT1). Furthermore, as MAGT1 is involved in the N-glycosylation process, XMEN disease is classified as a Congenital Disorder of Glycosylation. Although XMEN-associated immunodeficiency is well described, the mechanisms underlying platelet dysfunction and responsible for life-threatening bleeding events have never been investigated...
May 17, 2023: Journal of Thrombosis and Haemostasis: JTH
#6
JOURNAL ARTICLE
Haodong Ding, Yuwei Li, Maoxin Fang, Jiaojiao Chen, Lipin Liu, Zhigang Lu, Jia Hou, Min Luo
BACKGROUND: "X-linked MAGT1 deficiency with increased susceptibility to EBV infection and N-linked glycosylation defect" (XMEN) disease is a rare combined immunodeficiency (CID) caused by loss of function mutations in the magnesium transporter 1 (MAGT1) gene. MAGT1 deficiency impairs magnesium transport and the N-glycosylation of a panel of proteins, which subsequently abolishes the expression of key immune receptors such as Natural-Killer Group 2, member D (NKG2D). These effects induce immune system abnormalities, chronic EBV infection and neoplasia...
April 20, 2023: Journal of Allergy and Clinical Immunology
#7
JOURNAL ARTICLE
Xiaomin Peng, Yi Lu, Huijun Wang, Bingbing Wu, Mingyu Gan, Suzhen Xu, Deyi Zhuang, Jianshe Wang, Jinqiao Sun, Xiaochuan Wang, Wenhao Zhou
X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect (XMEN) disease is a primary immunodeficiency caused by loss-of-function variants in the MAGT1 gene. Only two patients from one family have been diagnosed with XMEN in China. In this study, we retrospectively analyzed the genetic, clinical, and immunological characteristics of six pediatric patients in a Chinese cohort. Medical records were retrieved, immunological phenotypes were assessed, and infectious microbes in patients were detected...
2022: Frontiers in Genetics
#8
JOURNAL ARTICLE
Maaz Jalil, Marija Rowane, Jayanth Rajan, Robert Hostoffer
Background: Novel messenger RNA vaccines against severe acute respiratory syndrome coronavirus (SARS-CoV-2) have been vital in resolving the coronavirus disease-2019 (COVID-19) pandemic. Detection of neutralizing antibodies (NAbs) against the SARS-CoV-2 spike protein (S) confirms immunogenicity with high sensitivity and specificity. Few recent studies with primary and secondary immunodeficient cohorts present adequate or reduced antibody response. We describe the first reported successful response to anti-SARS-CoV-2 S antibody post-vaccination in magnesium transporter 1 (MAGT1) gene deficiency, more commonly recognized as x-linked immunodeficiency with magnesium defect, Epstein-Barr Virus infection, and neoplasia (XMEN)...
January 2021: Allergy & Rhinology
#9
RANDOMIZED CONTROLLED TRIAL
Samuel D Chauvin, Susan Price, Juan Zou, Sally Hunsberger, Alessandra Brofferio, Helen Matthews, Morgan Similuk, Sergio D Rosenzweig, Helen C Su, Jeffrey I Cohen, Michael J Lenardo, Juan C Ravell
X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus (EBV) infection and N-linked glycosylation defect (XMEN) disease is an inborn error of immunity caused by loss-of-function mutations in the magnesium transporter 1 (MAGT1) gene. The original studies of XMEN patients focused on impaired magnesium regulation, leading to decreased EBV-cytotoxicity and the loss of surface expression of the activating receptor "natural killer group 2D" (NKG2D) on CD8+ T cells and NK cells. In vitro studies showed that supraphysiological supplementation of magnesium rescued these defects...
January 2022: Journal of Clinical Immunology
#10
JOURNAL ARTICLE
Julie Brault, Taylor Q Liu, Ezekiel Ayo Bello, Siyuan Liu, Colin L Sweeney, Ronald J Meis, Sherry Koontz, Cristina Corsino, Uimook Choi, Guillaume Vayssière, Marita Bosticardo, Kennichi C Dowdell, Cicera R Lazzarotto, Aaron Clark, Luigi D Notarangelo, Juan C Ravell, Michael J Lenardo, Benjamin P Kleinstiver, Shengdar Tsai, Xiaolin Wu, Gary A Dahl, Harry L Malech, Suk See De Ravin
'X-linked MAGT1 deficiency with increased susceptibility to Epstein-Barr virus-infection and N-linked glycosylation defect' (XMEN) disease is a recently described primary immunodeficiency marked by defective T and Natural Killer (NK) cells. Potentially curative hematopoietic stem cell transplant is associated with high mortality rates. We sought to develop an ex vivo targeted gene therapy approach for XMEN patients using CRISPR/Cas9/adeno-associated vector (AAV) to insert a therapeutic MAGT1 gene at the constitutive locus under the regulation of the endogenous promoter...
June 4, 2021: Blood
#11
Xin Huang, Dan Liu, Zifen Gao, Cuiling Liu
Background: X-linked immunodeficiency with magnesium defect and Epstein-Barr virus infection and neoplasia (XMEN) disease is an X-linked genetic disorder of immune system caused by loss-of-function mutation in gene encoding Magnesium transporter 1 (MAGT1). Individuals with XMEN disease are prone to developing Epstein Barr Virus (EBV)-associated lymphomas. Herein, we report the first known case of an EBV+ EMZL associated with XMEN disease. Case presentation: The patient was an 8-year-old Chinese boy who suffered from recurrent infections from birth...
2021: Frontiers in Oncology
#12
REVIEW
Ligia J Dominguez, Nicola Veronese, Fernando Guerrero-Romero, Mario Barbagallo
Reduced magnesium (Mg) intake is a frequent cause of deficiency with age together with reduced absorption, renal wasting, and polypharmacotherapy. Chronic Mg deficiency may result in increased oxidative stress and low-grade inflammation, which may be linked to several age-related diseases, including higher predisposition to infectious diseases. Mg might play a role in the immune response being a cofactor for immunoglobulin synthesis and other processes strictly associated with the function of T and B cells...
January 8, 2021: Nutrients
#13
JOURNAL ARTICLE
Linus Angenendt, Isabel Hilgefort, Jan-Henrik Mikesch, Bernhard Schlüter, Wolfgang E Berdel, Georg Lenz, Matthias Stelljes, Christoph Schliemann
Low intake of magnesium has been associated with the occurrence of lymphomas and decreased magnesium levels suppress the cytotoxic function of T cells and natural killer cells in patients with "X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia" (XMEN) syndrome. These cell types are also important mediators of immune-mediated effects after allogeneic hematopoietic stem cell transplantation. Here, we show that high posttransplant magnesium levels independently associate with a lower incidence of relapse, a higher risk of acute graft-versus-host disease, and a higher non-relapse mortality in 368 patients with acute myeloid leukemia from our center...
December 19, 2020: Annals of Hematology
#14
JOURNAL ARTICLE
Julie Brault, Ronald J Meis, Linhong Li, Ezekiel Bello, Taylor Liu, Colin L Sweeney, Sherry M Koontz, Kennichi Dowdell, Narda Theobald, Janet Lee, Cornell Allen, Aaron B Clark, Juan C Ravell, Michael J Lenardo, Gary A Dahl, Harry L Malech, Suk See De Ravin
BACKGROUND AIM: X-linked MAGT1 deficiency with increased susceptibility to EBV-infection and N-linked glycosylation defect' (XMEN) disease is caused by mutations in the magnesium transporter 1 (MAGT1) gene. Loss of MAGT1 function results in a glycosylation defect that abrogates expression of key immune proteins such as the NKG2D receptor on CD8+ T and NK cells, which is critical for the recognition and killing of virus-infected and transformed cells, a biomarker for MAGT1 function. Patients with XMEN disease frequently have increased susceptibility to EBV infections and EBV-associated B cell malignancies, for which no specific treatment options are currently available...
October 10, 2020: Cytotherapy
#15
REVIEW
Juan C Ravell, Samuel D Chauvin, Tingyan He, Michael Lenardo
"X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia" (XMEN) disease is an inborn error of glycosylation and immunity caused by loss of function mutations in the magnesium transporter 1 (MAGT1) gene. It is a multisystem disease that strongly affects certain immune cells. MAGT1 is now confirmed as a non-catalytic subunit of the oligosaccharyltransferase complex and facilitates Asparagine (N)-linked glycosylation of specific substrates, making XMEN a congenital disorder of glycosylation manifesting as a combined immune deficiency...
July 2020: Journal of Clinical Immunology
#16
REVIEW
Jennifer Gile, Gordon Ruan, Jithma Abeykoon, M Molly McMahon, Thomas Witzig
Magnesium is an important element that has essential roles in the regulation of cell growth, division, and differentiation. Mounting evidence in the literature suggests an association between hypomagnesemia and all-cause mortality. In addition, epidemiologic studies have demonstrated that a diet poor in magnesium increases the risk of developing cancer, highlighting its importance in the field of hematology and oncology. In solid malignancies, hypomagnesemia at diagnosis portends a worse prognosis. However, little is known about prognosis in patients with hypomagnesemia and blood cancers in general; lymphoma more specifically...
November 2020: Blood Reviews
#17
JOURNAL ARTICLE
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Elizabeth M Klinken, Paul E Gray, Bethany Pillay, Lisa Worley, Emily S J Edwards, Kathryn Payne, Bruce Bennetts, Dorothy Hung, Ben A Wood, Jonathan J Chan, Glenn M Marshall, Richard Mitchell, Gulbu Uzel, Cindy S Ma, Stuart G Tangye, Andrew McLean-Tooke
Variants in MAGT1 have been identified as the cause of an immune deficiency termed X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection and neoplasia (XMEN) disease. Here, we describe 2 cases of XMEN disease due to novel mutations in MAGT1, one of whom presented with classical features of XMEN disease and another who presented with a novel phenotype including probable CNS vasculitis, HHV-8 negative multicentric Castelman disease and severe molluscum contagiosum, thus highlighting the clinical diversity that may be seen in this condition...
February 2020: Journal of Clinical Immunology
#18
JOURNAL ARTICLE
Juan C Ravell, Mami Matsuda-Lennikov, Samuel D Chauvin, Juan Zou, Matthew Biancalana, Sally J Deeb, Susan Price, Helen C Su, Giulia Notarangelo, Ping Jiang, Aaron Morawski, Chrysi Kanellopoulou, Kyle Binder, Ratnadeep Mukherjee, James T Anibal, Brian Sellers, Lixin Zheng, Tingyan He, Alex B George, Stefania Pittaluga, Astin Powers, David E Kleiner, Devika Kapuria, Marc Ghany, Sally Hunsberger, Jeffrey I Cohen, Gulbu Uzel, Jenna Bergerson, Lynne Wolfe, Camilo Toro, William Gahl, Les R Folio, Helen Matthews, Pam Angelus, Ivan K Chinn, Jordan S Orange, Claudia M Trujillo-Vargas, Jose Luis Franco, Julio Orrego-Arango, Sebastian Gutiérrez-Hincapié, Niraj Chandrakant Patel, Kimiyo Raymond, Turkan Patiroglu, Ekrem Unal, Musa Karakukcu, Alexandre Gr Day, Pankaj Mehta, Evan Masutani, Suk S De Ravin, Harry L Malech, Grégoire Altan-Bonnet, V Koneti Rao, Matthias Mann, Michael J Lenardo
X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells (αβDNTs), in addition to the previously described features of an inverted CD4/CD8 ratio, CD4+ T lymphocytopenia, increased B cells, dysgammaglobulinemia, and decreased expression of the natural killer group 2, member D (NKG2D) receptor...
January 2, 2020: Journal of Clinical Investigation
#19
JOURNAL ARTICLE
Mami Matsuda-Lennikov, Matthew Biancalana, Juan Zou, Juan C Ravell, Lixin Zheng, Chrysi Kanellopoulou, Ping Jiang, Giulia Notarangelo, Huie Jing, Evan Masutani, Andrew J Oler, Lisa Renee Olano, Benjamin L Schulz, Michael J Lenardo
Magnesium transporter 1 (MAGT1) critically mediates magnesium homeostasis in eukaryotes and is highly conserved across different evolutionary branches. In humans, loss-of-function mutations in the MAGT1 gene cause X-linked magnesium deficiency with Epstein-Barr virus (EBV) infection and neoplasia (XMEN), a disease that has a broad range of clinical and immunological consequences. We have previously shown that EBV susceptibility in XMEN is associated with defective expression of the anti-viral natural-killer group 2 member D (NKG2D) protein and abnormal Mg2+ transport...
July 23, 2019: Journal of Biological Chemistry
#20
REVIEW
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
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