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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

The Journal of Clinical Investigation

Dec 9, 2019

Juan C RavellMichael J. Lenardo

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Abstract

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is 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, cav...read more

Mentioned in this Paper

B-Lymphocytes
Biological Markers
Malignant Neoplasms
Cytopenia
Dysgammaglobulinemia
Epstein-Barr Virus
Glycoproteins
Immunologic Deficiency Syndromes
Liver Diseases
Lymphopenia
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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

The Journal of Clinical Investigation

Dec 9, 2019

Juan C RavellMichael J. Lenardo

PMID: 31714901

DOI: 10.1172/jci131116

Abstract

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease is 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, cav...read more

Mentioned in this Paper

B-Lymphocytes
Biological Markers
Malignant Neoplasms
Cytopenia
Dysgammaglobulinemia
30
8

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