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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Vydáno v:J Clin Invest
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2019
Témata:
Research Article
On-line přístup: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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