• 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
Failure of immunological competence: when to suspect?免疫功能不全的失败:何时需要怀疑?
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S34-S38. doi: 10.1016/j.jped.2020.10.007. Epub 2020 Nov 8.
2
Inborn Errors of Immunity: how to diagnose them?遗传性免疫缺陷病:如何进行诊断?
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S84-S90. doi: 10.1016/j.jped.2020.11.007. Epub 2021 Jan 2.
3
Differing Performance of the Warning Signs for Immunodeficiency in the Diagnosis of Pediatric Versus Adult Patients in a Two-Center Tertiary Referral Population.在两家三级转诊中心的患者中,预警信号在儿科与成人患者中的免疫缺陷诊断表现不同。
J Clin Immunol. 2019 Jan;39(1):90-98. doi: 10.1007/s10875-018-0582-z. Epub 2019 Jan 4.
4
Extended List of Warning Signs in Qualification to Diagnosis and Treatment of Inborn Errors of Immunity in Children and Young Adults.儿童和青年先天性免疫缺陷诊断与治疗资质中的扩展警示信号清单。
J Clin Med. 2023 May 11;12(10):3401. doi: 10.3390/jcm12103401.
5
How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections.如何诊断病毒、细菌、分枝杆菌和真菌感染的固有和先天免疫的先天性错误。
Clin Microbiol Infect. 2022 Nov;28(11):1441-1448. doi: 10.1016/j.cmi.2022.07.021. Epub 2022 Aug 5.
6
Beyond Infections: New Warning Signs for Inborn Errors of Immunity in Children.超越感染:儿童遗传性免疫缺陷病的新警示信号
Front Pediatr. 2022 Jun 10;10:855445. doi: 10.3389/fped.2022.855445. eCollection 2022.
7
Immunodeficiencies: non-infectious manifestations.免疫缺陷:非感染性表现。
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S24-S33. doi: 10.1016/j.jped.2020.10.004. Epub 2020 Nov 8.
8
Repercussions of inborn errors of immunity on growth.免疫先天性缺陷对生长的影响。
J Pediatr (Rio J). 2019 Mar-Apr;95 Suppl 1:49-58. doi: 10.1016/j.jped.2018.11.006. Epub 2018 Dec 26.
9
Otitis Media and Inborn Errors of Immunity.中耳炎与先天性免疫缺陷
Curr Allergy Asthma Rep. 2020 Jul 11;20(10):59. doi: 10.1007/s11882-020-00957-x.
10
Immunological deficiencies: more frequent than they seem to be.免疫缺陷:比看起来更常见。
J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S49-S58. doi: 10.1016/j.jped.2020.10.009. Epub 2020 Nov 22.

引用本文的文献

1
Systematic screening for primary immunodeficiencies in patients hospitalized for severe infection in pediatric intensive care unit.对入住儿科重症监护病房因严重感染而住院的患者进行原发性免疫缺陷的系统筛查。
Sci Rep. 2025 Jul 1;15(1):22170. doi: 10.1038/s41598-025-02870-7.

本文引用的文献

1
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.人类先天性免疫缺陷:2019 年国际免疫学会联合会表型分类更新。
J Clin Immunol. 2020 Jan;40(1):66-81. doi: 10.1007/s10875-020-00758-x. Epub 2020 Feb 11.
2
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.人类先天性免疫缺陷:国际免疫学联盟专家委员会 2019 年分类更新。
J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.
3
Rheumatologic and autoimmune manifestations in primary immune deficiency.原发性免疫缺陷中的风湿免疫表现。
Curr Opin Allergy Clin Immunol. 2019 Dec;19(6):545-552. doi: 10.1097/ACI.0000000000000583.
4
Primary Immunodeficiency and the Gut.原发性免疫缺陷与肠道
Gastroenterol Clin North Am. 2019 Jun;48(2):199-220. doi: 10.1016/j.gtc.2019.02.004. Epub 2019 Apr 5.
5
Autoinflammatory Disorders: A Review and Update on Pathogenesis and Treatment.自身炎症性疾病:发病机制和治疗的综述及更新。
Am J Clin Dermatol. 2019 Aug;20(4):539-564. doi: 10.1007/s40257-019-00440-y.
6
Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management.原发性和继发性免疫缺陷病在肿瘤血液学中的表现:警示征象、诊断和处理。
Front Immunol. 2019 Mar 26;10:586. doi: 10.3389/fimmu.2019.00586. eCollection 2019.
7
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.当前对先天性免疫和 DNA 修复障碍相关恶性肿瘤的认识和未来研究重点:跨学科工作组的观点。
Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018.
8
Skin disorders are prominent features in primary immunodeficiency diseases: A systematic overview of current data.皮肤疾病是原发性免疫缺陷病的突出特征:对当前数据的系统综述。
Allergy. 2019 Mar;74(3):464-482. doi: 10.1111/all.13681. Epub 2018 Dec 27.
9
Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.肺部疾病中的原发性免疫缺陷病:预警信号、诊断与管理。
Respir Res. 2018 Nov 12;19(1):219. doi: 10.1186/s12931-018-0923-8.
10
Primary immunodeficiency.原发性免疫缺陷
Allergy Asthma Clin Immunol. 2018 Sep 12;14(Suppl 2):61. doi: 10.1186/s13223-018-0290-5. eCollection 2018.

免疫功能不全的失败:何时需要怀疑?

Failure of immunological competence: when to suspect?

机构信息

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Instituto de Puericultura e Pediatria Martagão Gesteira, Departamento de Pediatria, Rio de Janeiro, RJ, Brazil.

出版信息

J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S34-S38. doi: 10.1016/j.jped.2020.10.007. Epub 2020 Nov 8.

DOI:10.1016/j.jped.2020.10.007
PMID:33176165
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9432048/
Abstract

OBJECTIVES

To draw physicians' attention to the different warning signs of diseases of inborn errors of immunity.

DATA SOURCES

A non-systematic review of the literature was carried out in the PubMed, LILACS, and SciELO databases, in addition to consultation of reference textbooks.

SUMMARY OF THE FINDINGS

It is known that the lack of immunological competence observed in patients with inborn errors of immunity diseases causes particularly serious and/or recurrent infections. However, manifestations related to autoimmunity, inflammation, allergies, and malignancy can also occur. Aiming at the early identification of these patients, a list of warning signs for inborn errors of immunity was created, in which the need for intravenous antibiotics or prolonged antibiotics use to control infection, failure to thrive, and positive family history for this group of diseases are considered the most sensitive. Regarding non-infectious manifestations, early onset, difficulty in controlling with the usual treatments, atypical presentations or association with other warning signs are noteworthy, and investigation for inborn errors of immunity in these situations is recommended.

CONCLUSIONS

This article highlights the importance of considering this group of diseases even in the face of patients with non-infectious manifestations. Disclosure of inborn errors of immunity diseases, especially to non-specialists, is essential for early diagnosis and, consequently, for the reduction of these patients' morbidity and mortality.

摘要

目的

引起医生对遗传性免疫缺陷病不同警示信号的关注。

资料来源

在 PubMed、LILACS 和 SciELO 数据库中进行了非系统性文献回顾,并查阅了参考书。

研究结果总结

众所周知,遗传性免疫缺陷病患者观察到的免疫能力缺乏会导致特别严重和/或反复感染。然而,也可能出现与自身免疫、炎症、过敏和恶性肿瘤相关的表现。为了早期识别这些患者,列出了遗传性免疫缺陷病的警示信号清单,其中静脉内使用抗生素或长期使用抗生素来控制感染、生长不良以及该疾病家族史阳性被认为是最敏感的。关于非传染性表现,需要注意早期发病、通常治疗难以控制、不典型表现或与其他警示信号相关,建议在这些情况下对遗传性免疫缺陷病进行调查。

结论

本文强调了即使面对非传染性表现的患者,也要考虑这组疾病的重要性。遗传性免疫缺陷病的披露,尤其是对非专家的披露,对于早期诊断至关重要,从而降低这些患者的发病率和死亡率。