Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.
作者信息
Klemann Christian, Ammann Sandra, Heizmann Miriam, Fuchs Sebastian, Bode Sebastian F, Heeg Maximilian, Fuchs Hans, Lehmberg Kai, Zur Stadt Udo, Roll Claudia, Vraetz Thomas, Speckmann Carsten, Lorenz Myriam Ricarda, Schwarz Klaus, Rohr Jan, Feske Stefan, Ehl Stephan
机构信息
Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
出版信息
J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19.
Abstract
摘要
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本文引用的文献
1
Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.原发性和继发性噬血细胞性淋巴组织细胞增生症具有不同的T细胞激活、分化和谱系模式。
Eur J Immunol. 2017 Feb;47(2):364-373. doi: 10.1002/eji.201646686. Epub 2017 Jan 3.
2
Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function.储存性钙内流调节钙激活氯离子通道和外分泌汗腺功能。
J Clin Invest. 2016 Nov 1;126(11):4303-4318. doi: 10.1172/JCI89056. Epub 2016 Oct 10.
3
The STIM1: Orai Interaction.基质相互作用分子1（STIM1）与Orai蛋白的相互作用
Adv Exp Med Biol. 2016;898:25-46. doi: 10.1007/978-3-319-26974-0_2.
4
Diseases caused by mutations in ORAI1 and STIM1.由ORAI1和STIM1突变引起的疾病。
Ann N Y Acad Sci. 2015 Nov;1356(1):45-79. doi: 10.1111/nyas.12938. Epub 2015 Oct 15.
5
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.原发性免疫缺陷中的噬血细胞性淋巴组织细胞增生症综合征：对鉴别诊断和发病机制的意义
Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.
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Hemophagocytic syndromes--an update.噬血细胞综合征——更新。
Blood Rev. 2014 Jul;28(4):135-42. doi: 10.1016/j.blre.2014.03.002. Epub 2014 Mar 22.
7
Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.基质相互作用分子 1 缺陷患者的抗病毒和调节性 T 细胞免疫。
J Immunol. 2012 Feb 1;188(3):1523-33. doi: 10.4049/jimmunol.1102507. Epub 2011 Dec 21.
8
ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis.ORAI1 介导的钙离子内流对于人细胞毒性淋巴细胞脱颗粒和靶细胞裂解是必需的。
Proc Natl Acad Sci U S A. 2011 Feb 22;108(8):3324-9. doi: 10.1073/pnas.1013285108. Epub 2011 Feb 7.
9
The intracellular loop of Orai1 plays a central role in fast inactivation of Ca2+ release-activated Ca2+ channels.Orai1 的细胞内环在快速失活钙释放激活钙通道中起着核心作用。
J Biol Chem. 2010 Feb 12;285(7):5066-75. doi: 10.1074/jbc.M109.072736. Epub 2009 Dec 10.
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Involvement of p21ras activation in T cell CD69 expression.p21ras激活与T细胞CD69表达的关系。
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