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Article

An Update on XMEN Disease.

Journal of clinical immunology - 1 Jul 2020

Ravell Juan C, Chauvin Samuel D, He Tingyan, Lenardo Michael

Abstract excerpt

"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...

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Source

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Identifiers

PMID: 32451662
DOI: 10.1007/s10875-020-00790-x
PMCID: PMC7369250

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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An Update on XMEN Disease.PMID 32451662Read ↗

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseaseSemantic proximity Read ↗

X-linked immunodeficiency with magnesium defect, Epstein–Barr virus infection, and neoplasia diseaseSemantic proximity Read ↗

Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genesSemantic proximity Read ↗

Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.Semantic proximity Read ↗

Scales of Magt1 Gene: Novel Mutations, Different Presentations.Semantic proximity Read ↗

Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.Semantic proximity Read ↗

Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Hematologic TrajectoriesSemantic proximity Read ↗

[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].Semantic proximity Read ↗

XMEN-associated Systemic EBV-positive T-cell Lymphoma of Childhood: Report of Two Cases and Literature Review.Semantic proximity Read ↗

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Lymphoma arising in the setting of inborn errors of immunity: A six-case series of XMEN-associated pediatric lymphomaSemantic proximity Read ↗

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