Modifier-Sensitive Phenotypic Divergence in XMEN Disease (MAGT1 Deficiency): Neurodegenerative and Immuno-Hematologic Trajectories - PubMed
7 hours ago
- #MAGT1 deficiency
- #neurodegeneration
- #XMEN disease
- XMEN disease, caused by MAGT1 mutations, is a rare immunodeficiency with high clinical variability despite genetic similarities, such as absent NKG2D expression.
- Two siblings with the same MAGT1 variant showed divergent outcomes: one had progressive neurodegeneration and CNS atrophy, while the other developed EBV-positive Hodgkin lymphoma, autoimmune cytopenias, and thrombotic microangiopathy, a novel association.
- A proposed three-category classification for neurological involvement includes early-onset neurodevelopmental forms, adult-onset neurodegeneration, and secondary immune-mediated or vascular issues, aiding tailored surveillance.