Article
Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Hematologic Trajectories
2026-01-19
Abstract excerpt
<title>Abstract</title> <p> X-linked immunodeficiency with magnesium defect, Epstein–Barr virus (EBV) infection, and neoplasia (XMEN) disease is a rare inborn error of immunity caused by loss-of-function mutations in <italic>MAGT1</italic> , leading to impaired N-linked glycosylation. Although chronic EBV viremia represents a core feature, the determinants of marked clinical heterogeneity remain poorly underst...
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Identifiers and source
- Literature Corpus work
- ffff71fd-b55b-515e-9dfa-b85b4b7a9acd
- DOI
- 10.21203/rs.3.rs-8613879/v1
