TY - JOUR
T1 - STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
AU - Picard, Capucine
AU - McCarl, Christie Ann
AU - Papolos, Alexander
AU - Khalil, Sara
AU - Lüthy, Kevin
AU - Hivroz, Claire
AU - LeDeist, Francoise
AU - Rieux-Laucat, Frédéric
AU - Rechavi, Gideon
AU - Rao, Anjana
AU - Fischer, Alain
AU - Feske, Stefan
PY - 2009/5/7
Y1 - 2009/5/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=65649088588&partnerID=8YFLogxK
U2 - 10.1056/NEJMoa0900082
DO - 10.1056/NEJMoa0900082
M3 - ???researchoutput.researchoutputtypes.contributiontojournal.article???
C2 - 19420366
AN - SCOPUS:65649088588
SN - 0028-4793
VL - 360
SP - 1971
EP - 1980
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 19
ER -