ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency
ORAI1 基因突变导致储存操纵型 Ca(2+) 内流消失,从而引起无汗型外胚层发育不良伴免疫缺陷。
期刊:Journal of Allergy and Clinical Immunology
影响因子:11.2
doi:10.1016/j.jaci.2017.10.031
Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan