• 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

EROS/CYBC1 突变：NADPH 氧化酶功能下降和慢性肉芽肿病。

EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.

机构信息

Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom.

Division of Immunology, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, Mass.

出版信息

J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9.

DOI:10.1016/j.jaci.2018.09.019
PMID:30312704
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6490677/
Abstract

We demonstrate for the first time that EROS (CYBC1/C17ORF62) regulates abundance of the gp91phox-p22phox heterodimer of the phagocyte NADPH oxidase in human cells and that EROS mutations are a novel cause of chronic granulomatous disease.

摘要

我们首次证明，ERO（CYBC1/C17ORF62）在人细胞中调节吞噬细胞 NADPH 氧化酶的 gp91phox-p22phox 异二聚体的丰度，并且 EROS 突变是慢性肉芽肿病的一种新病因。

相似文献

1
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease.EROS/CYBC1 突变：NADPH 氧化酶功能下降和慢性肉芽肿病。
J Allergy Clin Immunol. 2019 Feb;143(2):782-785.e1. doi: 10.1016/j.jaci.2018.09.019. Epub 2018 Oct 9.
2
A novel mutation in EROS (CYBC1) causes chronic granulomatous disease.一种新型 EROS（CYBC1）突变导致慢性肉芽肿病。
Clin Immunol. 2023 Oct;255:109761. doi: 10.1016/j.clim.2023.109761. Epub 2023 Sep 8.
3
A new X-linked variant of chronic granulomatous disease characterized by the existence of a normal clone of respiratory burst-competent phagocytic cells.一种新的X连锁慢性肉芽肿病变体，其特征是存在具有呼吸爆发能力的吞噬细胞正常克隆。
Blood. 1995 Jan 1;85(1):231-41.
4
Intersecting Stories of the Phagocyte NADPH Oxidase and Chronic Granulomatous Disease.吞噬细胞NADPH氧化酶与慢性肉芽肿病的交叉故事
Methods Mol Biol. 2019;1982:3-16. doi: 10.1007/978-1-4939-9424-3_1.
5
NADPH oxidase.烟酰胺腺嘌呤二核苷酸磷酸氧化酶
Int J Biochem Cell Biol. 1996 Nov;28(11):1191-5. doi: 10.1016/s1357-2725(96)00084-2.
6
Structural basis for EROS binding to human phagocyte NADPH oxidase NOX2.ERO 与人吞噬细胞 NADPH 氧化酶 NOX2 结合的结构基础。
Proc Natl Acad Sci U S A. 2024 Jun 4;121(23):e2320388121. doi: 10.1073/pnas.2320388121. Epub 2024 May 28.
7
Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.爱神蛋白是一种新型跨膜蛋白，它控制吞噬细胞的呼吸爆发，对先天免疫至关重要。
J Exp Med. 2017 Apr 3;214(4):1111-1128. doi: 10.1084/jem.20161382. Epub 2017 Mar 28.
8
The NADPH oxidase of phagocytic leukocytes.吞噬性白细胞的NADPH氧化酶
Ann N Y Acad Sci. 1997 Dec 15;832:215-22. doi: 10.1111/j.1749-6632.1997.tb46249.x.
9
Successful immune reconstitution by means of hematopoietic stem cell transplantation in a Colombian patient with chronic granulomatous disease.一名患有慢性肉芽肿病的哥伦比亚患者通过造血干细胞移植成功实现免疫重建。
Biomedica. 2016 Jun 3;36(2):204-12. doi: 10.7705/biomedica.v36i2.2870.
10
Delineation of the phagocyte NADPH oxidase through studies of chronic granulomatous diseases of childhood.通过对儿童慢性肉芽肿病的研究来描绘吞噬细胞NADPH氧化酶。
Curr Opin Immunol. 1992 Feb;4(1):53-6. doi: 10.1016/0952-7915(92)90124-w.

引用本文的文献

1
The value of DHR-enzyme-linked immunosorbent assay in the diagnosis of chronic granulomatous disease by detecting NADPH oxidase complex activity.通过检测NADPH氧化酶复合物活性，DHR-酶联免疫吸附测定法在慢性肉芽肿病诊断中的价值。
Front Pediatr. 2025 Jun 5;13:1483173. doi: 10.3389/fped.2025.1483173. eCollection 2025.
2
Functional assays for the diagnosis of chronic granulomatous disease.用于诊断慢性肉芽肿病的功能测定
J Immunol Methods. 2025 Feb;537:113820. doi: 10.1016/j.jim.2025.113820. Epub 2025 Jan 28.
3
Standardization of the use of opsonized zymosan as stimulus in the 1,2,3-dihydrorhodamine technique for the assessment of neutrophil respiratory burst.

本文引用的文献

1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.基于前1000个诊断面板和外显子组的沙特阿拉伯遗传疾病概况。
Hum Genet. 2017 Aug;136(8):921-939. doi: 10.1007/s00439-017-1821-8. Epub 2017 Jun 9.
2
Eros is a novel transmembrane protein that controls the phagocyte respiratory burst and is essential for innate immunity.爱神蛋白是一种新型跨膜蛋白，它控制吞噬细胞的呼吸爆发，对先天免疫至关重要。
J Exp Med. 2017 Apr 3;214(4):1111-1128. doi: 10.1084/jem.20161382. Epub 2017 Mar 28.
3
Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.
在用于评估中性粒细胞呼吸爆发的1,2,3 - 二氢罗丹明技术中，将调理酵母聚糖用作刺激物的使用标准化。
Biomedica. 2024 Dec 23;44(Sp. 2):198-208. doi: 10.7705/biomedica.7461.
4
NADPH oxidases: redox regulation of cell homeostasis and disease.烟酰胺腺嘌呤二核苷酸磷酸氧化酶：细胞稳态与疾病的氧化还原调节
Physiol Rev. 2025 Jul 1;105(3):1291-1428. doi: 10.1152/physrev.00034.2023. Epub 2025 Jan 15.
5
Tuberculosis in otherwise healthy adults with inherited TNF deficiency.遗传性肿瘤坏死因子缺陷的健康成年人中的结核病。
Nature. 2024 Sep;633(8029):417-425. doi: 10.1038/s41586-024-07866-3. Epub 2024 Aug 28.
6
Diagnosis of Chronic Granulomatous Disease: Strengths and Challenges in the Genomic Era.慢性肉芽肿病的诊断：基因组时代的优势与挑战
J Clin Med. 2024 Jul 29;13(15):4435. doi: 10.3390/jcm13154435.
7
Constructing a prognostic model for hepatocellular carcinoma based on bioinformatics analysis of inflammation-related genes.基于炎症相关基因的生物信息学分析构建肝细胞癌预后模型
Front Med (Lausanne). 2024 Jul 11;11:1420353. doi: 10.3389/fmed.2024.1420353. eCollection 2024.
8
Clinical presentation, diagnosis, and treatment of chronic granulomatous disease.慢性肉芽肿病的临床表现、诊断及治疗
Front Pediatr. 2024 Jun 28;12:1384550. doi: 10.3389/fped.2024.1384550. eCollection 2024.
9
First Report on Chronic Granulomatous Disease from Nepal and a Review of CYBC1 Deficiency.尼泊尔首例慢性肉芽肿病报告及 CYBC1 缺陷综述。
J Clin Immunol. 2024 Jun 19;44(7):149. doi: 10.1007/s10875-024-01752-3.
10
Structural basis for EROS binding to human phagocyte NADPH oxidase NOX2.ERO 与人吞噬细胞 NADPH 氧化酶 NOX2 结合的结构基础。
Proc Natl Acad Sci U S A. 2024 Jun 4;121(23):e2320388121. doi: 10.1073/pnas.2320388121. Epub 2024 May 28.
慢性肉芽肿病患者的分枝杆菌病：71 例回顾性分析。
J Allergy Clin Immunol. 2016 Jul;138(1):241-248.e3. doi: 10.1016/j.jaci.2015.11.041. Epub 2016 Feb 28.
4
Hemophagocytic lymphohistiocytosis in children with chronic granulomatous disease.儿童慢性肉芽肿病中的噬血细胞性淋巴组织细胞增生症。
Pediatr Blood Cancer. 2011 Mar;56(3):460-2. doi: 10.1002/pbc.22830. Epub 2010 Nov 11.
5
Chronic granulomatous disease: the European experience.慢性肉芽肿病：欧洲的经验
PLoS One. 2009;4(4):e5234. doi: 10.1371/journal.pone.0005234. Epub 2009 Apr 21.
6
How neutrophils kill microbes.中性粒细胞如何杀死微生物。
Annu Rev Immunol. 2005;23:197-223. doi: 10.1146/annurev.immunol.23.021704.115653.