Brief Report: STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity.

被引：393

作者：

Picard, Capucine ^{[1
,2
,3
]}

McCarl, Christie-Ann ^{[6
]}

Papolos, Alexander ^{[6
]}

Khalil, Sara ^{[6
]}

Luethy, Kevin ^{[6
]}

Hivroz, Claire ^{[4
,5
]}

LeDeist, Francoise ^{[1
,4
,7
,8
]}

Rieux-Laucat, Frederic ^{[3
,4
]}

Rechavi, Gideon ^{[9
,10
]}

Rao, Anjana ^{[11
,12
]}

Fischer, Alain ^{[1
,3
,4
]}

Feske, Stefan ^{[6
]}

机构：

[1] Hop Necker Enfants Malad, AP HP, Paris, France

[2] Necker Fac, INSERM, Unite 550, Lab Genet Humaine Malad Infect, Paris, France

[3] Paris Descartes Univ, Paris, France

[4] INSERM, Unite 768, Paris, France

[5] Inst Curie, INSERM, Unite 653, Paris, France

[6] NYU, Sch Med, New York, NY 10016 USA

[7] Ctr Hosp Univ St Justine, Montreal, PQ, Canada

[8] Univ Montreal, Montreal, PQ, Canada

[9] Tel Aviv Univ, Chaim Sheba Med Ctr, IL-69978 Tel Aviv, Israel

[10] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel

[11] Immune Dis Inst, Boston, MA USA

[12] Harvard Univ, Sch Med, Boston, MA USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 360卷 / 19期

关键词：

OPERATED CALCIUM-ENTRY; CRAC CHANNEL; T-CELL; STORE DEPLETION; SENSOR STIM1; CA2+ INFLUX; ACTIVATION; LYMPHOCYTES; ORAI1; OLIGOMERIZATION;

D O I：

10.1056/NEJMoa0900082

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：1971 / 1980

页数：10

共 31 条

[1] Essential function for the calcium sensor STIM1 in mast cell activation and anaphylactic responses [J].