Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 360, Issue 19, Pages 1971-1980Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0900082
Keywords
-
Categories
Funding
- NIAID NIH HHS [R01 AI048213, R01 AI048213-09] Funding Source: Medline
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available