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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Detaylı Bibliyografya
Yayımlandı:J Clin Invest
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Clinical Investigation 2019
Konular:
Research Article
Online Erişim: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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