期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 360, 期 19, 页码 1971-1980出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0900082
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资金
- NIAID NIH HHS [R01 AI048213, R01 AI048213-09] Funding Source: Medline
A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(sup 2+)-release-activated Ca(sup 2+) (CRAC) channel, abrogates the store-operated entry of Ca(sup 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(sup 2+) influx.
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