STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.
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DOI：
10.1056/nejmoa0900082
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发表时间：
2009-05-07
期刊：
影响因子：
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通讯作者：
Feske S
中科院分区：
文献类型：
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作者：
Picard C;McCarl CA;Papolos A;Khalil S;Lüthy K;Hivroz C;LeDeist F;Rieux-Laucat F;Rechavi G;Rao A;Fischer A;Feske S
编码Ca 2+释放激活的Ca 2+（CRAC）通道的孔形成亚基的基因ORAI 1突变，消除了钙库操作的Ca 2+进入细胞并损害淋巴细胞活化。内质网中的基质相互作用分子1（STIM 1）激活ORAI 1-CRAC通道。我们报告一个家族的三个兄弟姐妹的临床综合征的免疫缺陷，肝脾肿大，自身免疫性溶血性贫血，血小板减少症，肌张力减退，牙釉质缺损。这些患者中有两个在STIM 1中具有纯合无义突变，其废除了STIM 1和Ca 2+内流的表达。
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.