- databases for immunodeficiency-causing variations

   Variation registry for  Severe combined immunodeficiency

ORAI1base mutation publications

[2009] [2006]

Search PubMed latest citations for ORAI1 mutations


  • ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia.
    McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, Kutok J, Hivroz C, Ledeist F, Plogmann K, Ehl S, Notheis G, Albert MH, Belohradsky BH, Kirschner J, Rao A, Fischer A, Feske S
    J Allergy Clin Immunol 2009(6): 1311-1318.e7 [PubMed abstract].


  • A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.
    Feske S, Gwack Y, Prakriya M, Srikanth S, Puppel SH, Tanasa B, Hogan PG, Lewis RS, Daly M, Rao A
    Nature 2006(7090): 179-85 [PubMed abstract].