ArticleThe Journal of clinical investigation2020
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
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Article in The Journal of clinical investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 2 of them syntheses that pooled it.
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60citing papers in PubMed, 2 pooled it
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Who cites it
60 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.Journal of clinical immunology · 2024Pooled it
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.Journal of clinical immunology · 2022Trial
- Exploring the prognostic value of the magnesium-immune prognostic score (MIPS) in metastatic non-small cell lung cancer receiving Nivolumab.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Second allogeneic stem cell transplantation for XMEN disease.BMJ case reports · 2026Article
- Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories.Journal of clinical medicine · 2026Article
- TRPM7 and magnesium orchestrate human CD4 T-cell activation and differentiation.Life science alliance · 2026Article
- Case Report: NovelFrontiers in immunology · 2026Article
- Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia.Frontiers in immunology · 2026Article
- Article
- The impact of genetic immune disorders on infections including COVID-19, inflammatory bowel disease and cancer.Nature immunology · 2025Review
- XMEN Disease Associated with Recurrent Autoimmune Cytopenia and EBV-Positive Hodgkin Lymphoma: A Case ReportTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Atypical lymphoproliferations associated with germline genetic variants: a report of the 2024 EA4HP/SH lymphoma workshop.Virchows Archiv : an international journal of pathology · 2025Review
- Epidemiology, Transmission, and Evolution of Japanese Encephalitis Virus.Microorganisms · 2025Article
- Effects of two different variants in theFrontiers in immunology · 2025Article
- Atypical Phenotype of Predominant Autoimmune Cytopenia and Impaired Perforin Expression in XMEN Syndrome.Journal of immunology research · 2025Article
- Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiencyBiomedica : revista del Instituto Nacional de Salud · 2024Article
- Beyond FAScinating: advances in diagnosis and management of autoimmune lymphoproliferative syndrome and activated PI3 kinase δ syndrome.Hematology. American Society of Hematology. Education Program · 2024Review
- Adult-onset neurodegeneration in XMEN disease.Journal of neuroimmunology · 2024Article
- Cytokine Storm Syndromes Associated with Epstein-Barr Virus.Advances in experimental medicine and biology · 2024Review
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Authors and funding
54 authors at 19 institutions in 6 countries.
Juan C RavellMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Mami Matsuda-LennikovMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Samuel D ChauvinMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Juan ZouMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Matthew BiancalanaMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Sally J DeebProteomics and Signal Transduction Group and Computational Systems Biochemistry, Max Planck Institute of Biochemistry, Martinsried, Germany.
Susan PriceLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Helen C SuLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Giulia NotarangeloMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Ping JiangMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Aaron MorawskiMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Chrysi KanellopoulouMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Kyle BinderMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Ratnadeep MukherjeeCenter for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA.
James T AnibalCenter for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA.
Brian SellersTrans-NIH Center for Human Immunology, Autoimmunity, and Inflammation, NIH, Bethesda, Maryland, USA.
Lixin ZhengMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Tingyan HeMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Alex B GeorgeMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Stefania PittalugaHematopathology Section, Laboratory of Pathology, NCI, Bethesda, Maryland, USA.
Astin PowersLaboratory of Pathology, NCI, Bethesda, Maryland, USA.
David E KleinerLaboratory of Pathology, NCI, Bethesda, Maryland, USA.
Devika KapuriaLiver Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Bethesda, Maryland, USA.
Marc GhanyLiver Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Bethesda, Maryland, USA.
Sally HunsbergerBiostatistics Research Branch, NIAID.
Jeffrey I CohenMedical Virology Section, Laboratory of Infectious Diseases, NIAID.
Gulbu UzelLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Jenna BergersonLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Lynne WolfeNational Human Genome Research Institute, and.
Camilo ToroNational Human Genome Research Institute, and.
William GahlNational Human Genome Research Institute, and.
Les R FolioRadiology and Imaging Sciences, Clinical Center, NIH, Bethesda, Maryland, USA.
Helen MatthewsMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Pam AngelusLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Ivan K ChinnTexas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
Jordan S OrangeTexas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
Claudia M Trujillo-VargasGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Jose Luis FrancoGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Julio Orrego-ArangoGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Sebastian Gutiérrez-HincapiéGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
Niraj Chandrakant PatelSection of Infectious Disease and Immunology, Department of Pediatrics, Carolinas Medical Center, and.
Kimiyo RaymondBiochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
Turkan PatirogluDepartment of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Ekrem UnalDepartment of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Musa KarakukcuDepartment of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
Alexandre Gr DayDepartment of Physics, Boston University, Boston, Massachusetts, USA.
Pankaj MehtaDepartment of Physics, Boston University, Boston, Massachusetts, USA.
Evan MasutaniMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
Suk S De RavinLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Harry L MalechLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Grégoire Altan-BonnetCenter for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA.
V Koneti RaoLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
Matthias MannProteomics and Signal Transduction Group and Computational Systems Biochemistry, Max Planck Institute of Biochemistry, Martinsried, Germany.
Michael J LenardoMolecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
National Institute of Allergy and Infectious Diseases · USOffice of Extramural Research · USUniversidad de Antioquia · COErciyes University · TRNational Cancer Institute · USNational Human Genome Research Institute · USBaylor College of Medicine · USBoston University · USCenter for Cancer Research · USMax Planck Institute of Biochemistry · DENational Institute of Diabetes and Digestive and Kidney Diseases · USCancer Research And Biostatistics · USCarolinas Medical Center · USFrederick National Laboratory for Cancer Research · USHemanext (United States) · USMayo Clinic · USNational Institute of Infectious Diseases · JPNational Institute of Neurological Disorders and Stroke · USNational Institutes of Health Clinical Center · US
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MCenter for Human Immunology ZICAI001226 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI CHERRY, JAMES · 2018 to 2025
$34.1MDefining New Human Immunodeficiency and Immunodysregulation DisordersZIAAI001059 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2009 to 2025
$20.5MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MPostmortem PathologyZICBC010685 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI KLEINER, DAVID ERWIN · 2009 to 2025
$14.3MEpstein-Barr Virus Associated DisordersZIAAI000913 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI COHEN, JEFFREY · 2009 to 2025
$14.3MGene Therapy Basic Research to Treat Inherited Primary Immune DeficienciesZIAAI000644 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI MALECH, HARRY L · 2009 to 2025
$12.1MClinical, Immunological and Genetic Analyses of ALPS and Related Immunedysregulatory DisordersZIAAI000732 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI RAO, V KONETI · 2009 to 2025
$10.5MDevelopment and Clinical Application of Gene and Cell therapies for Patients with Immune DeficienciesZIAAI000645 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI DE RAVIN, SUK SEE · 2009 to 2025
$10.1MPathogenesis and Chemotherapy of Human Virus InfectionsZIAAI000058 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI COHEN, JEFFREY · 2009 to 2025
$8.8MGENETIC, IMMUNOLOGIC AND MECHANISTIC BASIS OF HUMAN NK CELL DEFICIENCYR01AI120989 · NIAID · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ORANGE, JORDAN SCOTT · 2016 to 2025
$7.7MNew Roles of Magnesium as a Regulatory Ion in Immune Responses and Cell Behavior ZIAAI001187 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN · 2013 to 2024
$5.8MCCR NIH HHS HHSN261200800001CNCI NIH HHS HHSN261200800001ENHGRI NIH HHS UM1 HG006542NIAID NIH HHS R01 AI120989NIGMS NIH HHS R35 GM119461
Abstract
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. EBV-associated B cell malignancies occurred frequently in EBV-infected patients. We studied patients with XMEN and patients with autoimmune lymphoproliferative syndrome (ALPS) by deep immunophenotyping (32 immune markers) using time-of-flight mass cytometry (CyTOF). Our analysis revealed that the abundance of 2 populations of naive B cells (CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4++CD10+CD38+ and CD20+CD27-CD22+IgM+HLA-DR+CXCR5+CXCR4+CD10-CD38-) could differentially classify XMEN, ALPS, and healthy individuals. We also performed glycoproteomics analysis on T lymphocytes and show that XMEN disease is a congenital disorder of glycosylation that affects a restricted subset of glycoproteins. Transfection of MAGT1 mRNA enabled us to rescue proteins with defective glycosylation. Together, these data provide new clinical and pathophysiological foundations with important ramifications for the diagnosis and treatment of XMEN disease.
Indexed as
Antigens, CDAutoimmune Lymphoproliferative SyndromeCation Transport ProteinsCD4-CD8 RatioFemaleGlycosylationHumansMagnesium DeficiencyMaleX-Linked Combined Immunodeficiency DiseasesAntigens, CDCation Transport ProteinsMagT1 protein, humanGenetic diseasesGlycobiologyImmunologyProteoglycans
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