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Massachusetts Medical Society, New England Journal of Medicine, 19(360), p. 1971-1980, 2009

DOI: 10.1056/nejmoa0900082

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STIM1Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

Journal article published in 2009 by Capucine Picard ORCID, Christie-Ann McCarl, Alexander Papolos, Sara Khalil, Kevin Lüthy, Claire Hivroz, Francoise LeDeist, Frédéric Rieux-Laucat, Gideon Rechavi, Anjana Rao, Alain Fischer, Stefan Feske
This paper is available in a repository.
This paper is available in a repository.

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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 channels. We report on three siblings from one kindred with a clinical syndrome of immunodeficiency, hepatosplenomegaly, autoimmune hemolytic anemia, thrombocytopenia, muscular hypotonia, and defective enamel dentition. Two of these patients have a homozygous nonsense mutation in STIM1 that abrogates expression of STIM1 and Ca(2+) influx.