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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Clin Invest
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: American Society for Clinical Investigation 2019
Gaiak:
Research Article
Sarrera elektronikoa: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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