Evidence map›Paper›PMID 38041964›Full record

ArticleJournal of neuroimmunology2024

Adult-onset neurodegeneration in XMEN disease.

Daniel Benavides, Anusha Ebrahim, Juan C Ravell, Michael Lenardo, William A Gahl, Camilo Toro

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of neuroimmunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
1.3field-weighted citation impact, top 19% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Daniel BenavidesUndiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. Electronic address: daniel.benavides@nih.gov.
Anusha EbrahimUndiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. Electronic address: anusha.ebrahim@nih.gov.
Juan C RavellCenter for Allergy, Asthma, & Immune Disorders, Hackensack University Medical Center, Hackensack, NJ, USA; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, USA. Electronic address: juan.ravell@hmhn.org.
Michael LenardoLaboratory of Clinical Immunology and Microbiology, Division of Intramural Research (DIR), National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, MD, USA. Electronic address: mlenardo@niaid.nih.gov.
William A GahlUndiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: gahlw@nih.gov.
Camilo ToroUndiagnosed Diseases Program, National Institutes of Health, Bethesda, MD, USA. Electronic address: toroc@mail.nih.gov.
National Institutes of Health · USHackensack University Medical Center · USNational Institute of Allergy and Infectious Diseases · US

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Human Biochemical GeneticsZ01HG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM ALLEN · 2003 to 2008
$10.2M
New 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
$5.8M
Undiagnosed Diseases ProgramZIAHG200421 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2023 to 2025
$825k
Intramural NIH HHS Z01 HG000215Intramural NIH HHS ZIA HG000215
6 · The paper itself

Abstract

backgroundXMEN (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. CASES: Two young men, ages 32 and 33, are described here with truncating mutations in MAGT1, progressive behavioral changes, and neurodegenerative symptoms. These features manifested well into adulthood. Both patients still presented with many of the molecular and clinical hallmarks of the typical XMEN patient, including chronic EBV viremia and decreased expression of NKG2D.

conclusionWhile previously unrecognized, XMEN may include prominent and disabling CNS manifestations. How MAGT1 deficiency directly or indirectly contributes to neurodegeneration remains unclear. Elucidating this mechanism may contribute to the understanding of neurodegeneration more broadly.

Indexed as

Cation Transport ProteinsEpstein-Barr Virus InfectionsNeoplasmsAdultHerpesvirus 4, HumanHumansMagnesiumMaleCation Transport ProteinsMagnesiumGeneticsNeurodegenerationNeuroimmunologyPrimary immunodeficiencyXMEN disease

Identifiers

PMID38041964
PMCPMC10842803
OpenAlexW4388979781

What OpenQuestion holds

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Registered trials

None linked

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.