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1
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.噬血细胞性淋巴组织细胞增生症作为由ORAI1突变导致的重症联合免疫缺陷的首发表现。
J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19.
2
A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.一种与迟发性噬血细胞性淋巴组织细胞增生症及正常色素沉着相关的RAB27A 5'非翻译区结构变异体。
J Allergy Clin Immunol. 2018 Jul;142(1):317-321.e8. doi: 10.1016/j.jaci.2018.02.031. Epub 2018 Mar 6.
3
[ORAI1 variation induced combined immunodeficiency: a case report and literature review].[ORAI1基因变异导致的联合免疫缺陷：一例报告及文献复习]
Zhonghua Er Ke Za Zhi. 2019 Feb 2;57(2):142-145. doi: 10.3760/cma.j.issn.0578-1310.2019.02.015.
4
Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies.家族性噬血细胞性淋巴组织细胞增生症和严重T细胞及B细胞免疫缺陷的联合新生儿筛查。
J Allergy Clin Immunol. 2014 Jul;134(1):226-8. doi: 10.1016/j.jaci.2014.04.026. Epub 2014 May 29.
5
X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.X 连锁凋亡抑制蛋白（XIAP）缺乏症：除噬血细胞性淋巴组织细胞增生症以外的临床表现谱。
Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31.
6
A Novel Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.一例 11 岁患儿表现为综合征性免疫缺陷、自身炎症、噬血细胞性淋巴组织细胞增生症和恶性肿瘤的新型突变：病例报告。
Front Immunol. 2020 Mar 13;11:318. doi: 10.3389/fimmu.2020.00318. eCollection 2020.
7
Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment.噬血细胞性淋巴组织细胞增生症：病理生理学、诊断及治疗进展
J Pediatr. 2013 Nov;163(5):1253-9. doi: 10.1016/j.jpeds.2013.06.053. Epub 2013 Aug 15.
8
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.
9
Congenital hemophagocytic lymphohistiocytosis presenting as thrombocytopenia in a newborn.先天性噬血细胞性淋巴组织细胞增生症在新生儿中表现为血小板减少症。
J Pediatr Hematol Oncol. 2015 May;37(4):300-3. doi: 10.1097/MPH.0000000000000234.
10
Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.2型格里塞利综合征一家系的突变分析与产前诊断：RAB27A基因的两个新突变
World J Pediatr. 2017 Aug;13(4):392-394. doi: 10.1007/s12519-017-0037-2.

引用本文的文献

1
Store-Operated Ca Entry in Fibrosis and Tissue Remodeling.纤维化和组织重塑中的储存-操作性钙内流
Contact (Thousand Oaks). 2024 Dec 9;7:25152564241291374. doi: 10.1177/25152564241291374. eCollection 2024 Jan-Dec.
2
Inborn Errors of Immunity and Cytokine Storm Syndromes.先天性免疫缺陷和细胞因子风暴综合征。
Adv Exp Med Biol. 2024;1448:185-207. doi: 10.1007/978-3-031-59815-9_14.
3
Genetics of Primary Hemophagocytic Lymphohistiocytosis.原发性噬血细胞性淋巴组织细胞增生症的遗传学。
Adv Exp Med Biol. 2024;1448:75-101. doi: 10.1007/978-3-031-59815-9_7.
4
HLH as an additional warning sign of inborn errors of immunity beyond familial-HLH in children: a systematic review.HLH 作为儿童先天免疫缺陷以外家族性 HLH 的附加预警信号：系统评价。
Front Immunol. 2024 Feb 13;15:1282804. doi: 10.3389/fimmu.2024.1282804. eCollection 2024.
5
Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.严重联合免疫缺陷婴儿噬血细胞性淋巴组织细胞增生症的特征：来自印度北部昌迪加尔的经验。
Front Immunol. 2022 Jun 23;13:867753. doi: 10.3389/fimmu.2022.867753. eCollection 2022.
6
Mechanisms of Immunotoxicity: Stressors and Evaluators.免疫毒性的机制：应激原和评估物。
Int J Mol Sci. 2021 Jul 31;22(15):8242. doi: 10.3390/ijms22158242.
7
Altered Organelle Calcium Transport in Ovarian Physiology and Cancer.卵巢生理与癌症中细胞器钙转运的改变
Cancers (Basel). 2020 Aug 10;12(8):2232. doi: 10.3390/cancers12082232.
8
CRAC Channels and Calcium Signaling in T Cell-Mediated Immunity.CRAC 通道与 T 细胞介导免疫中的钙信号转导
Trends Immunol. 2020 Oct;41(10):878-901. doi: 10.1016/j.it.2020.06.012. Epub 2020 Jul 22.
9
STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells.STIM1 介导体钙内流控制抗真菌免疫和非致病性 Th17 细胞的代谢功能。
EMBO Mol Med. 2020 Aug 7;12(8):e11592. doi: 10.15252/emmm.201911592. Epub 2020 Jul 1.
10
Current Flow Cytometric Assays for the Screening and Diagnosis of Primary HLH.原发性噬血细胞性淋巴组织细胞增生症的筛选和诊断的当前流式细胞术检测。
Front Immunol. 2019 Jul 23;10:1740. doi: 10.3389/fimmu.2019.01740. eCollection 2019.

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.
6
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.
10
Involvement of p21ras activation in T cell CD69 expression.p21ras激活与T细胞CD69表达的关系。
Eur J Immunol. 1994 Mar;24(3):616-20. doi: 10.1002/eji.1830240319.

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.

DOI:10.1016/j.jaci.2017.05.039
PMID:28633876
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5723226/
Abstract
摘要