Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN...
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
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Author / Creator
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 Gr , Mehta, Pankaj , Masutani, Evan , De Ravin, Suk S , Malech, Harry L , Altan-Bonnet, Grégoire , Rao, V Koneti , Mann, Matthias and Lenardo, Michael J
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
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 pellucidum (CSP), and increased CD4-CD8-B220-TCRαβ+...
Alternative Titles
Full title
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease
Authors, Artists and Contributors
Author / Creator
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 Gr
Mehta, Pankaj
Masutani, Evan
De Ravin, Suk S
Malech, Harry L
Altan-Bonnet, Grégoire
Rao, V Koneti
Mann, Matthias
Lenardo, Michael J
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6934229
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6934229
Other Identifiers
ISSN
0021-9738,1558-8238
E-ISSN
1558-8238
DOI
10.1172/JCI131116
