Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

ABSTRACT: 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...

Full description

Autores:

Trujillo Vargas, Claudia Milena
Franco Restrepo, José Luis
Orrego Arango, Julio
Gutiérrez Hincapié, Sebastián
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
Ravell, Juan C.
Patel Niraj, Chandrakant
Raymond, Kimiyo
Patiroglu, Turkan
Unal, Ekrem
Karakukcu, Musa
Day, Alexandre
Mehta, Pankaj
Masutani, Evan
De Ravin, Suk S.
Malech, Harry L.
Altan Bonnet, Grégoire
Rao V, Koneti
Mann, Matthias
Lenardo, Michael J.

Tipo de recurso:

Article of investigation

Fecha de publicación:

2020

Institución:

Universidad de Antioquia

Repositorio:

Repositorio UdeA

Idioma:

eng

OAI Identifier:

oai:bibliotecadigital.udea.edu.co:10495/40976

Acceso en línea:

https://hdl.handle.net/10495/40976

Palabra clave:

Antigens, CD
Antígenos CD
Autoimmune Lymphoproliferative Syndrome
Síndrome Linfoproliferativo Autoinmune
CD4-CD8 Ratio
Relación CD4-CD8
Cation Transport Proteins
Proteínas de Transporte de Catión
Glycosylation
Glicosilación
Magnesium Deficiency
Deficiencia de Magnesio
X-Linked Combined Immunodeficiency Diseases
Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X
https://id.nlm.nih.gov/mesh/D015703
https://id.nlm.nih.gov/mesh/D056735
https://id.nlm.nih.gov/mesh/D016516
https://id.nlm.nih.gov/mesh/D027682
https://id.nlm.nih.gov/mesh/D006031
https://id.nlm.nih.gov/mesh/D008275
https://id.nlm.nih.gov/mesh/D053632

Rights

openAccess

License

http://creativecommons.org/licenses/by/2.5/co/