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Article

Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

12 Nov 2019

Abstract excerpt

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (MAGT1) gene. We studied 23 patients with XMEN, 8 of whom were EBV naive. We observed lymphadenopathy (LAD), cytopenias, liver disease, cavum septum pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+ T cells (αβDNTs), in addition to the previously described features...

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PMID: 31714901
DOI: 10.1172/jci131116

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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN diseasePMID 31714901Read ↗

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