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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Pubblicato in:J Clin Invest
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2019
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Research Article
Accesso online: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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