Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease

Ravell, JC; Matsuda-Lennikov, M; Chauvin, SD; Zou, J; Biancalana, M; Deeb, SJ; Price, S; Su, HC; Notarangelo, G; Jiang, P; Morawski, A; Kanellopoulou, C; Binder, K; Mukherjee, R; Anibal, JT; Sellers, B; Zheng, LX; He, TY; George, AB; Pittaluga, S; Powers, A; Kleiner, DE; Kapuria, D; Ghany, M; Hunsberger, S; Cohen, JI; Uzel, G; Bergerson, J; Wolfe, L; Toro, C; Gahl, W; Folio, LR; Matthews, H; Angelus, P; Chinn, IK; Orange, JS; Trujillo-Vargas, CM; Franco, JL; Orrego-Arango, J; Gutierrez-Hincapie, S; Patel, NC; Raymond, K; Patiroglu, T; Unal, E; Karakukcu, M; Day, AGR; Mehta, P; Masutani, E; De Ravin, SS; Malech, HL; Altan-Bonnet, G; Rao, VK; Mann, M; Lenardo, MJ

Altan-Bonnet, G (corresponding author), NCI, Ctr Canc Res, Bldg 37,Room 4134, Bethesda, MD 20892 USA.; Lenardo, MJ (corresponding author), NIAID, Lab Immune Syst Biol, NIH, Bldg 10,Room 11N311,10 Ctr Dr,MSC 1892, Bethesda, MD 20892 USA.

JOURNAL OF CLINICAL INVESTIGATION, 2020; 130 (1): 507

Abstract

X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia (XMEN) disease are caused by deficiency of the magnesium transporter 1 (......

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