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Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.与半胱天冬酶8新突变相关的淋巴细胞增殖、免疫缺陷和早发性炎症性肠病
Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18.
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Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.CASP10 变异，诊断挑战：单中心经验及文献复习。
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Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.由于体细胞FAS突变（ALPS-sFAS）合并种系半胱天冬酶-10（CASP10）变异导致的自身免疫性淋巴细胞增生综合征
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[Primary immunodeficiency disease based on ITK mutation: report of a case].[基于ITK突变的原发性免疫缺陷病：一例报告]
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ITK deficiency presenting as autoimmune lymphoproliferative syndrome.ITK 缺陷导致的自身免疫性淋巴组织增生综合征。
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Caspase-8 in inflammatory diseases: a potential therapeutic target.半胱天冬酶-8 在炎症性疾病中的作用：一个潜在的治疗靶点。
Cell Mol Biol Lett. 2024 Oct 8;29(1):130. doi: 10.1186/s11658-024-00646-x.
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Apoptotic cell death in disease-Current understanding of the NCCD 2023.疾病中的细胞凋亡性死亡——2023 年对 NCCD 的最新理解。
Cell Death Differ. 2023 May;30(5):1097-1154. doi: 10.1038/s41418-023-01153-w. Epub 2023 Apr 26.
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A rare immunological disease, caspase 8 deficiency: case report and literature review.一种罕见的免疫疾病——半胱天冬酶8缺乏症：病例报告及文献综述
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Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.新型致半胱天冬酶-8 切割抗性 RIPK1 诱导的自身炎症综合征的致病性变异体的特征。
J Clin Immunol. 2022 Oct;42(7):1421-1432. doi: 10.1007/s10875-022-01298-2. Epub 2022 Jun 18.
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Lymphoproliferation in Inborn Errors of Immunity: The Eye Does Not See What the Mind Does Not Know.免疫先天缺陷中的淋巴组织增生：眼不见，心不晓。
Front Immunol. 2022 May 4;13:856601. doi: 10.3389/fimmu.2022.856601. eCollection 2022.
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Caspase-8 auto-cleavage regulates programmed cell death and collaborates with RIPK3/MLKL to prevent lymphopenia.半胱天冬酶-8 的自我切割调节程序性细胞死亡，并与 RIPK3/MLKL 合作防止淋巴细胞减少症。
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Caspase-8 mutations associated with head and neck cancer differentially retain functional properties related to TRAIL-induced apoptosis and cytokine induction.与头颈部癌症相关的半胱氨酸天冬氨酸蛋白酶-8 突变体在保留与 TRAIL 诱导的细胞凋亡和细胞因子诱导相关的功能特性方面存在差异。
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An IFN-STAT Axis Augments Tissue Damage and Inflammation in a Mouse Model of Crohn's Disease.干扰素-信号转导和转录激活因子轴加剧克罗恩病小鼠模型的组织损伤和炎症。
Front Med (Lausanne). 2021 May 20;8:644244. doi: 10.3389/fmed.2021.644244. eCollection 2021.
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From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration.从化学蛋白质组学检测到的氨基酸到基因组坐标：深入了解精确的多组学数据整合。
Mol Syst Biol. 2021 Feb;17(2):e9840. doi: 10.15252/msb.20209840.

本文引用的文献

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Caspase-8: regulating life and death.半胱天冬酶-8：调控生死
Immunol Rev. 2017 May;277(1):76-89. doi: 10.1111/imr.12541.
2
Caspase-8: not so silently deadly.半胱天冬酶-8：并非悄无声息地致命。
Clin Transl Immunology. 2017 Jan 6;6(1):e124. doi: 10.1038/cti.2016.83. eCollection 2017 Jan.
3
Caspase-8 regulates the expression of pro- and anti-inflammatory cytokines in human bone marrow-derived mesenchymal stromal cells.Caspase-8 调节人骨髓间充质基质细胞中促炎和抗炎细胞因子的表达。
Immun Inflamm Dis. 2016 Jul 21;4(3):327-37. doi: 10.1002/iid3.117. eCollection 2016 Sep.
4
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.过度活跃的 mTOR 通路促进自身免疫性淋巴增生综合征中的淋巴增殖和异常分化。
Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20.
5
Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings.胱天蛋白酶-8缺乏症在两名成年同胞中表现为迟发性多器官淋巴细胞浸润伴肉芽肿
J Clin Immunol. 2015 May;35(4):348-55. doi: 10.1007/s10875-015-0150-8. Epub 2015 Mar 27.
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Structural and biochemical studies on procaspase-8: new insights on initiator caspase activation.procaspase-8的结构与生化研究：起始半胱天冬酶激活的新见解
Structure. 2009 Mar 11;17(3):438-48. doi: 10.1016/j.str.2008.12.019.
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Functional specialization of human circulating CD16 and CD1c myeloid dendritic-cell subsets.人类循环CD16和CD1c髓样树突状细胞亚群的功能特化
Blood. 2007 Jun 15;109(12):5371-9. doi: 10.1182/blood-2006-08-038422. Epub 2007 Mar 1.
8
Roles of caspase-8 and caspase-10 in innate immune responses to double-stranded RNA.半胱天冬酶-8和半胱天冬酶-10在对双链RNA的天然免疫反应中的作用。
J Immunol. 2006 Apr 15;176(8):4520-4. doi: 10.4049/jimmunol.176.8.4520.
9
Requirement for caspase-8 in NF-kappaB activation by antigen receptor.抗原受体激活NF-κB过程中半胱天冬酶-8的需求
Science. 2005 Mar 4;307(5714):1465-8. doi: 10.1126/science.1104765.
10
A unified model for apical caspase activation.顶端半胱天冬酶激活的统一模型。
Mol Cell. 2003 Feb;11(2):529-41. doi: 10.1016/s1097-2765(03)00051-0.

Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.

作者信息

Kanderova Veronika, Grombirikova Hana, Zentsova Irena, Reblova Kamila, Klocperk Adam, Fejtkova Martina, Bloomfield Marketa, Ravcukova Barbora, Kalina Tomas, Freiberger Tomas, Sediva Anna

机构信息

Department of Pediatric Hematology and Oncology, 2 Faculty of Medicine, Charles University, and University Hospital Motol, Prague.

Centre for Cardiovascular Surgery and Transplantation, Brno.

出版信息

Haematologica. 2019 Jan;104(1):e32-e34. doi: 10.3324/haematol.2018.201673. Epub 2018 Oct 18.

DOI:10.3324/haematol.2018.201673
PMID:30337362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6312013/
Abstract
摘要