STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity

Capucine Picard, Christie Ann McCarl, Alexander Papolos, Sara Khalil, Kevin Lüthy, Claire Hivroz, Francoise LeDeist, Frédéric Rieux-Laucat, Gideon Rechavi, Anjana Rao, Alain Fischer, Stefan Feske*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca2+-release-activated Ca2+ (CRAC) channel, abrogates the store-operated entry of Ca2+ 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 Ca2+ influx.

Original languageEnglish
Pages (from-to)1971-1980
Number of pages10
JournalNew England Journal of Medicine
Issue number19
StatePublished - 7 May 2009


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