STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

Pïcard, Capucine; McCarl, Christie‐Ann; Papolos, Alexander; Khalil, Sara; Lüthy, Kevin; Hivroz, Claire; Ledeist, F; Rieux‐Laucat, Frédéric; Rechavi, Gideon; Rao, Anjana; Fischer, Alain; Feske, Stefan

doi:10.1056/nejmoa0900082

Public

STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

Published in New England Journal of Medicine • May 6, 2009

Authors:

Capucine Pïcard

Christie‐Ann McCarl

Alexander Papolos

Abstract

A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release-activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1-CRAC c...

Subject

ORAI1

Medicine

Immunodeficiency

Research Assistant

AI chat, annotations, notes & similar papers

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!