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N Engl J Med. 2009 May 7;360(19):1971-80. doi: 10.1056/NEJMoa0900082.

STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

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  • 1Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Paris.

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.

2009 Massachusetts Medical Society

PMID:
19420366
[PubMed - indexed for MEDLINE]
PMCID:
PMC2851618
Free PMC Article
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