ArticleJournal of clinical immunology2020
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Article in Journal of clinical immunology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 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
- A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease.Journal of clinical immunology · 2022Trial
- Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories.Journal of clinical medicine · 2026Article
- Case Report: A successful case of allogeneic stem cell transplantation for pediatric XMEN characterized by neutropenia.Frontiers in immunology · 2026Article
- Genetics in a Danish Common Variable Immunodeficiency Cohort.Journal of clinical immunology · 2025Article
- Molecular Impact of Magnesium-Mediated Immune Regulation in Diseases.Scientifica · 2025Review
- Effects of two different variants in theFrontiers in immunology · 2025Article
- Monozygotic Twins with MAGT1 Deficiency and Epstein-Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report.Journal of clinical immunology · 2024Article
- 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
- Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.Frontiers in immunology · 2024Review
- Genetic lesions and targeted therapy in Hodgkin lymphoma.Therapeutic advances in hematology · 2023Review
- Mucosal-associated invariant T cells are activated in an interleukin-18-dependent manner in Epstein-Barr virus-associated T/natural killer cell lymphoproliferative diseases.Clinical and experimental immunology · 2022Article
- Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.Genes and immunity · 2022Article
- Further Delineation of the Spectrum of XMEN Disease in Six Chinese Pediatric Patients.Frontiers in genetics · 2022Article
- NovelCase reports in immunology · 2022Article
- Insights into mucosal associated invariant T cell biology from human inborn errors of immunity.Frontiers in immunology · 2022Article
- CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.Blood · 2021Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Magnesium in Infectious Diseases in Older People.Nutrients · 2021Review
Corrections and comments
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Authors and funding
16 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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. Peripheral blood immunophenotyping of these 2 patients, together with an additional 4 XMEN patients, revealed reduced NKG2D expression, impaired CD28 expression on CD8
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.