• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.细胞分裂素8（DOCK8）缺乏症的流式细胞术诊断
J Allergy Clin Immunol. 2014 Jul;134(1):221-3. doi: 10.1016/j.jaci.2014.02.023. Epub 2014 Apr 1.
2
A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.一例细胞分裂8部分调控因子缺乏症患者，其效应细胞表型改变，CD8⁺细胞和自然杀伤细胞的细胞毒性受损。
J Allergy Clin Immunol. 2014 Jul;134(1):218-21. doi: 10.1016/j.jaci.2014.01.023. Epub 2014 Mar 14.
3
The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency.64例细胞分裂素8缺失患者的扩展临床表型。
J Allergy Clin Immunol. 2015 Aug;136(2):402-12. doi: 10.1016/j.jaci.2014.12.1945. Epub 2015 Feb 25.
4
[Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition].[严重特应性和过敏——由DOCK8突变作为潜在病因引起的罕见高IgE综合征]
Duodecim. 2015;131(6):541-4.
5
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.造血干细胞移植有效地挽救了 DOCK8 缺陷患者的淋巴细胞分化和功能。
JCI Insight. 2019 Apr 25;5(11):127527. doi: 10.1172/jci.insight.127527.
6
Novel Variants of DOCK8 Deficiency in a Case Series of Iranian Patients.伊朗患者病例系列中的 DOCK8 缺陷新型变体。
Endocr Metab Immune Disord Drug Targets. 2022;22(1):159-168. doi: 10.2174/1871530321666210226143912.
7
Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome.三名患有细胞分裂8 dedicator（DOCK8）缺陷相关高IgE综合征的患者在清髓性预处理后成功进行了造血干细胞移植。
Bone Marrow Transplant. 2018 Mar;53(3):339-343. doi: 10.1038/s41409-017-0040-1. Epub 2017 Dec 21.
8
Successful engraftment of donor marrow after allogeneic hematopoietic cell transplantation in autosomal-recessive hyper-IgE syndrome caused by dedicator of cytokinesis 8 deficiency.同源造血细胞移植后，因细胞分裂蛋白 8 缺陷导致的常染色体隐性高免疫球蛋白 E 综合征供者骨髓成功植入。
J Allergy Clin Immunol. 2010 Dec;126(6):1304-5.e3. doi: 10.1016/j.jaci.2010.07.034.
9
DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists.DOCK8突变综合征：皮肤科医生面临的诊断挑战。
Acta Derm Venereol. 2016 Nov 2;96(7):991-992. doi: 10.2340/00015555-2288.
10
Expansion of CCR4+ activated T cells is associated with memory B cell reduction in DOCK8-deficient patients.CCR4+ 激活的 T 细胞扩增与 DOCK8 缺陷患者记忆 B 细胞减少相关。
Clin Immunol. 2014 May-Jun;152(1-2):164-70. doi: 10.1016/j.clim.2014.03.008. Epub 2014 Mar 24.

引用本文的文献

1
Leveraging Systems Immunology to Optimize Diagnosis and Treatment of Inborn Errors of Immunity.利用系统免疫学优化免疫缺陷病的诊断与治疗
Front Syst Biol. 2022;2. doi: 10.3389/fsysb.2022.910243. Epub 2022 Jul 18.
2
Inborn Errors of Immunity: A Role for Functional Testing and Flow Cytometry in Aiding Clinical Diagnosis.先天性免疫缺陷：功能检测和流式细胞术在辅助临床诊断中的作用。
J Allergy Clin Immunol Pract. 2023 Jun;11(6):1579-1591. doi: 10.1016/j.jaip.2023.03.049. Epub 2023 Apr 11.
3
Diagnostic challenge in a series of eleven patients with hyper IgE syndromes.11 例高免疫球蛋白 E 综合征患者的诊断挑战。
Front Immunol. 2023 Jan 10;13:1057679. doi: 10.3389/fimmu.2022.1057679. eCollection 2022.
4
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.特应性皮炎样遗传性皮肤病：疾病诊断与管理
Diagnostics (Basel). 2022 Sep 9;12(9):2177. doi: 10.3390/diagnostics12092177.
5
A Critical Review on the Standardization and Quality Assessment of Nonfunctional Laboratory Tests Frequently Used to Identify Inborn Errors of Immunity.非功能性实验室检测在鉴定先天性免疫缺陷中的标准化和质量评估的批判性综述
Front Immunol. 2021 Nov 9;12:721289. doi: 10.3389/fimmu.2021.721289. eCollection 2021.
6
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8.高免疫球蛋白 E 综合征源于 DOCK8 基因内含子隐匿性纯合变异
J Clin Immunol. 2022 Jan;42(1):119-129. doi: 10.1007/s10875-021-01152-x. Epub 2021 Oct 17.
7
Hemolysis inhibits humoral B-cell responses and modulates alloimmunization risk in patients with sickle cell disease.溶血抑制体液 B 细胞反应，并调节镰状细胞病患者的同种免疫风险。
Blood. 2021 Jan 14;137(2):269-280. doi: 10.1182/blood.2020008511.
8
Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.20 例细胞分裂素 8 (DOCK8) 缺陷患者的临床、免疫学特征及随访。
Pediatr Allergy Immunol. 2020 Jul;31(5):515-527. doi: 10.1111/pai.13236. Epub 2020 Mar 11.
9
Electrochemical selection of a DNA aptamer, and an impedimetric method for determination of the dedicator of cytokinesis 8 by self-assembly of a thiolated aptamer on a gold electrode.电化学选择 DNA 适体，以及通过金电极上硫醇化适体的自组装测定细胞分裂蛋白 8 的电化学阻抗法。
Mikrochim Acta. 2019 Nov 21;186(12):828. doi: 10.1007/s00604-019-3817-7.
10
Flow Cytometry for Diagnosis of Primary Immune Deficiencies-A Tertiary Center Experience From North India.流式细胞术在原发性免疫缺陷病诊断中的应用：来自印度北部的一家三级中心的经验。
Front Immunol. 2019 Sep 11;10:2111. doi: 10.3389/fimmu.2019.02111. eCollection 2019.

本文引用的文献

1
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.缺陷肌动蛋白积累损害了细胞分裂 8 缺陷患者的自然杀伤细胞功能。
J Allergy Clin Immunol. 2013 Mar;131(3):840-8. doi: 10.1016/j.jaci.2012.12.1568. Epub 2013 Feb 4.
2
In DOCK8 deficiency donor cell engraftment post-genoidentical hematopoietic stem cell transplantation is possible without conditioning.在DOCK8缺陷型同基因造血干细胞移植后，无需预处理即可实现供体细胞植入。
J Allergy Clin Immunol. 2013 Apr;131(4):1244-5. doi: 10.1016/j.jaci.2012.12.663. Epub 2013 Jan 23.
3
DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.DOCK8 作为衔接子，将 TLR-MyD88 信号转导至 B 细胞激活。
Nat Immunol. 2012 May 13;13(6):612-20. doi: 10.1038/ni.2305.
4
DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.DOCK8 缺陷损害人类和小鼠 CD8 T 细胞的存活和功能。
J Exp Med. 2011 Oct 24;208(11):2305-20. doi: 10.1084/jem.20110345. Epub 2011 Oct 17.
5
Successful long-term correction of autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency by hematopoietic stem cell transplantation.通过造血干细胞移植成功长期纠正由于DOCK8缺陷导致的常染色体隐性高IgE综合征。
Klin Padiatr. 2010 Nov;222(6):351-5. doi: 10.1055/s-0030-1265135. Epub 2010 Nov 5.
6
Curative treatment of autosomal-recessive hyper-IgE syndrome by hematopoietic cell transplantation.造血细胞移植治疗常染色体隐性遗传高免疫球蛋白 E 综合征。
Bone Marrow Transplant. 2011 Apr;46(4):552-6. doi: 10.1038/bmt.2010.169. Epub 2010 Jul 12.
7
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.常染色体隐性遗传形式的高免疫球蛋白 E 综合征中涉及胞质分裂因子 8 (DOCK8)的大片段缺失和点突变。
J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038.
8
Dock8 mutations cripple B cell immunological synapses, germinal centers and long-lived antibody production.Dock8突变会损害B细胞免疫突触、生发中心和长寿抗体的产生。
Nat Immunol. 2009 Dec;10(12):1283-91. doi: 10.1038/ni.1820. Epub 2009 Nov 8.
9
Combined immunodeficiency associated with DOCK8 mutations.与DOCK8突变相关的联合免疫缺陷
N Engl J Med. 2009 Nov 19;361(21):2046-55. doi: 10.1056/NEJMoa0905506. Epub 2009 Sep 23.

Flow cytometry diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency.

作者信息

Pai Sung-Yun, de Boer Helen, Massaad Michel J, Chatila Talal A, Keles Sevgi, Jabara Haifa H, Janssen Erin, Lehmann Leslie E, Hanna-Wakim Rima, Dbaibo Ghassan, McDonald Douglas R, Al-Herz Waleed, Geha Raif S

机构信息

Division of Hematology-Oncology, Boston Children's Hospital, Boston, Mass; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Mass.

Division of Hematology-Oncology, Boston Children's Hospital, Boston, Mass.

出版信息

J Allergy Clin Immunol. 2014 Jul;134(1):221-3. doi: 10.1016/j.jaci.2014.02.023. Epub 2014 Apr 1.

DOI:10.1016/j.jaci.2014.02.023
PMID:24698323
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6317337/
Abstract
摘要