• 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

Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine.

作者信息

Hsieh Elena W Y, Bolze Alexandre, Hernandez Joseph D

机构信息

Department of Pediatrics, Section of Allergy and Immunology, Department of Immunology and Microbiology, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, Colorado, USA.

Helix, San Mateo, California, USA.

出版信息

Immunol Rev. 2024 Mar;322(1):5-14. doi: 10.1111/imr.13311. Epub 2024 Feb 2.

DOI:10.1111/imr.13311
PMID:38308392
Abstract
摘要

相似文献

1
Inborn errors of immunity illuminate mechanisms of human immunology and pave the road to precision medicine.遗传性免疫缺陷揭示了人类免疫学机制,并为精准医学铺平了道路。
Immunol Rev. 2024 Mar;322(1):5-14. doi: 10.1111/imr.13311. Epub 2024 Feb 2.
2
Inborn Errors of Immunity and Efforts to Diagnose Affected Children in the Absence of Training and Specialty Practice in Clinical Immunology in Ethiopia: a Brief Report.先天性免疫缺陷及在埃塞俄比亚临床免疫学缺乏培训和专业实践的情况下对受影响儿童进行诊断的努力:简要报告。
J Clin Immunol. 2023 Dec 22;44(1):11. doi: 10.1007/s10875-023-01605-5.
3
Inborn errors of immunity: single mutations unravel mechanisms of immune disease.遗传性免疫缺陷:单个突变揭示免疫疾病机制
Immunol Cell Biol. 2019 Apr;97(4):358-359. doi: 10.1111/imcb.12247. Epub 2019 Apr 3.
4
Genomics is rapidly advancing precision medicine for immunological disorders.基因组学正在迅速推动针对免疫紊乱的精准医学发展。
Nat Immunol. 2015 Oct;16(10):1001-4. doi: 10.1038/ni.3275.
5
What can clinical immunology learn from inborn errors of epigenetic regulators?临床免疫学可以从表观遗传调控因子的先天性错误中学到什么?
J Allergy Clin Immunol. 2021 May;147(5):1602-1618. doi: 10.1016/j.jaci.2021.01.035. Epub 2021 Feb 17.
6
Gene- and Disease-Based Expansion of the Knowledge on Inborn Errors of Immunity.基于基因和疾病的免疫固有错误知识扩展。
Front Immunol. 2019 Oct 21;10:2475. doi: 10.3389/fimmu.2019.02475. eCollection 2019.
7
Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches.先天性免疫缺陷中的免疫耐受崩溃:为新的治疗方法铺平道路。
Clin Immunol. 2023 Jun;251:109302. doi: 10.1016/j.clim.2023.109302. Epub 2023 Mar 24.
8
Precision Medicine in the Treatment of Primary Immune Deficiency Patients With Disorders of Immune Dysregulation.精准医学在免疫调节紊乱相关原发性免疫缺陷病患者治疗中的应用
Clin Rev Allergy Immunol. 2022 Aug;63(1):1-8. doi: 10.1007/s12016-021-08871-4. Epub 2021 Jun 24.
9
Approach to genetic diagnosis of inborn errors of immunity through next-generation sequencing.通过下一代测序进行先天性免疫缺陷的基因诊断方法。
Mol Immunol. 2021 Sep;137:57-66. doi: 10.1016/j.molimm.2021.06.018. Epub 2021 Jun 30.
10
Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.先天性免疫缺陷中打破免疫耐受的细胞和分子机制。
Cell Mol Immunol. 2021 May;18(5):1122-1140. doi: 10.1038/s41423-020-00626-z. Epub 2021 Apr 1.

引用本文的文献

1
Functional insights of an uncommon hypomorphic variant in as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia.作为伴有抗体缺陷和T CD4淋巴细胞减少的类常见变异免疫缺陷病(CVID)样疾病的单基因病因,其功能见解
Front Immunol. 2025 Mar 18;16:1544863. doi: 10.3389/fimmu.2025.1544863. eCollection 2025.
2
Functional validation of a novel STAT3 'variant of unknown significance' identifies a new case of STAT3 GOF syndrome and reveals broad immune cell defects.一种新型STAT3“意义未明变异体”的功能验证确定了一例新的STAT3功能获得性综合征病例,并揭示了广泛的免疫细胞缺陷。
Clin Exp Immunol. 2025 Jan 21;219(1). doi: 10.1093/cei/uxaf005.