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干扰素 γ 在易患传染病的疾病中的作用。

Interferon Gamma in Sickness Predisposing to Infectious Diseases.

机构信息

Department of Pediatric Allergy and Immunology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Hospital for Sick Children, Paris, France

出版信息

Balkan Med J. 2024 Sep 6;41(5):326-332. doi: 10.4274/balkanmedj.galenos.2024.2024-8-18. Epub 2024 Aug 26.

DOI:10.4274/balkanmedj.galenos.2024.2024-8-18
PMID:39183693
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11588913/
Abstract

In recent decades, the prevalence of inborn errors of immunity has increased, necessitating the development of more effective treatment and care options for these highly morbid conditions. Due to these “experiments of nature,” the complicated nature of the immune system is being revealed. Based on the functional and molecular tests, targeted therapies are now being developed which offer a more effective approach and reduce damage. This study aimed to investigate a key cytokine of the cellular immune response, interferon‐gamma (IFN-γ), which is linked to Mendelian susceptibility to Mycobacterial disease, and its potential as a therapeutic option for IFN-γ deficiency.

摘要

近几十年来,先天性免疫缺陷的发病率不断上升,因此需要开发更有效的治疗和护理方案来应对这些高度病态的疾病。由于这些“自然实验”,免疫系统的复杂性逐渐被揭示。目前正在根据功能和分子检测结果开发靶向治疗方法,以期提供更有效的治疗方法并减少损伤。本研究旨在研究细胞免疫反应的关键细胞因子干扰素-γ(IFN-γ),它与孟德尔对分枝杆菌病易感性有关,及其作为 IFN-γ 缺乏症治疗选择的潜力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fcb8/11588913/669ee1a8fa55/BalkanMedJ-41-326-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fcb8/11588913/669ee1a8fa55/BalkanMedJ-41-326-figure-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fcb8/11588913/669ee1a8fa55/BalkanMedJ-41-326-figure-1.jpg

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1
Interferon Gamma in Sickness Predisposing to Infectious Diseases.干扰素 γ 在易患传染病的疾病中的作用。
Balkan Med J. 2024 Sep 6;41(5):326-332. doi: 10.4274/balkanmedj.galenos.2024.2024-8-18. Epub 2024 Aug 26.
2
[Genetic predisposition and susceptibility to mycobacterial infections: the IL-12-IFNgamma axis deficiency].[遗传易感性与分枝杆菌感染易感性:白细胞介素-12-γ干扰素轴缺陷]
Rev Med Brux. 2005 Feb;26(1):17-9.
3
Human host genetic factors in nontuberculous mycobacterial infection: lessons from single gene disorders affecting innate and adaptive immunity and lessons from molecular defects in interferon-gamma-dependent signaling.非结核分枝杆菌感染中的人类宿主遗传因素:来自影响先天性和适应性免疫的单基因疾病的经验教训以及来自γ干扰素依赖性信号传导分子缺陷的经验教训。
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Cell. 2020 Dec 23;183(7):1826-1847.e31. doi: 10.1016/j.cell.2020.10.046. Epub 2020 Dec 8.
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Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense.人类干扰素(IFN)介导免疫的先天性缺陷:对IFN-α/β、IFN-γ和IFN-λ在宿主防御中各自作用的见解。
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Mendelian susceptibility to mycobacterial infection in man.人类对分枝杆菌感染的孟德尔易感性。
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Inherited human IFN-γ deficiency underlies mycobacterial disease.遗传性人干扰素-γ 缺乏导致分枝杆菌病。
J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.

本文引用的文献

1
Diagnosis and Management of Infections in Patients with Mendelian Susceptibility to Mycobacterial Disease.孟德尔遗传性分枝杆菌病易感性患者感染的诊断与管理
Pathogens. 2024 Feb 25;13(3):203. doi: 10.3390/pathogens13030203.
2
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency.重组 IFN-γ1b 治疗遗传性 IFN-γ 缺陷患者。
J Clin Immunol. 2024 Feb 16;44(3):62. doi: 10.1007/s10875-024-01661-5.
3
Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.
孟德尔易感性分枝杆菌病(MSMD)患者 830 例的遗传、免疫和临床特征:系统评价。
J Allergy Clin Immunol. 2024 May;153(5):1432-1444. doi: 10.1016/j.jaci.2024.01.021. Epub 2024 Feb 8.
4
Beyond Tuberculosis: The Growing Threat of Nontuberculous Mycobacteria.超越结核病:非结核分枝杆菌日益增长的威胁
Balkan Med J. 2023 Oct 20;40(6):384-385. doi: 10.4274/balkanmedj.galenos.2023.2023-28092023.
5
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds.孟德尔易感性分枝杆菌病(MSMD):来自 15 个摩洛哥家系的 22 例患者的临床、免疫和遗传特征。
J Clin Immunol. 2023 May;43(4):728-740. doi: 10.1007/s10875-022-01419-x. Epub 2023 Jan 11.
6
Effective anti-mycobacterial treatment for BCG disease in patients with Mendelian Susceptibility to Mycobacterial Disease (MSMD): a case series.对孟德尔遗传易感性分枝杆菌病(MSMD)患者的卡介苗病进行有效的抗分枝杆菌治疗:病例系列研究。
Ann Clin Microbiol Antimicrob. 2022 Mar 1;21(1):8. doi: 10.1186/s12941-022-00500-y.
7
Leukocytoclastic vasculitis in patients with IL12B or IL12RB1 deficiency: case report and review of the literature.白细胞碎裂性血管炎在 IL12B 或 IL12RB1 缺陷患者中的表现:病例报告及文献复习。
Pediatr Rheumatol Online J. 2021 Aug 13;19(1):121. doi: 10.1186/s12969-021-00623-0.
8
Inherited human IFN-γ deficiency underlies mycobacterial disease.遗传性人干扰素-γ 缺乏导致分枝杆菌病。
J Clin Invest. 2020 Jun 1;130(6):3158-3171. doi: 10.1172/JCI135460.
9
Mendelian susceptibility to mycobacterial disease: recent discoveries.孟德尔易感性对分枝杆菌病的影响:最新发现。
Hum Genet. 2020 Jun;139(6-7):993-1000. doi: 10.1007/s00439-020-02120-y. Epub 2020 Feb 5.
10
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.中国内地孟德尔易感性分枝杆菌病管理的现状。
J Clin Immunol. 2019 Aug;39(6):600-610. doi: 10.1007/s10875-019-00672-x. Epub 2019 Jul 31.