Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

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 pe...

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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: Ravell, Juan C., Matsuda-Lennikov, Mami, Chauvin, Samuel D., Zou, Juan, Biancalana, Matthew, Deeb, Sally J., Price, Susan, Su, Helen C., Notarangelo, Giulia, Jiang, Ping, Morawski, Aaron, Kanellopoulou, Chrysi, Binder, Kyle, Mukherjee, Ratnadeep, Anibal, James T., Sellers, Brian, Zheng, Lixin, He, Tingyan, George, Alex B., Pittaluga, Stefania, Powers, Astin, Kleiner, David E., Kapuria, Devika, Ghany, Marc, Hunsberger, Sally, Cohen, Jeffrey I., Uzel, Gulbu, Bergerson, Jenna, Wolfe, Lynne, Toro, Camilo, Gahl, William, Folio, Les R., Matthews, Helen, Angelus, Pam, Chinn, Ivan K., Orange, Jordan S., Trujillo-Vargas, Claudia M., Franco, Jose Luis, Orrego-Arango, Julio, Gutiérrez-Hincapié, Sebastian, Patel, Niraj Chandrakant, Raymond, Kimiyo, Patiroglu, Turkan, Unal, Ekrem, Karakukcu, Musa, Day, Alexandre G.R., Mehta, Pankaj, Masutani, Evan, De Ravin, Suk S., Malech, Harry L., Altan-Bonnet, Grégoire, Rao, V. Koneti, Mann, Matthias, Lenardo, Michael J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6934229/
https://ncbi.nlm.nih.gov/pubmed/31714901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI131116
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