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Global trend analysis, mechanistic insights and future directions of autoimmune ear diseases: Based on comprehensive findings over the past 20 years 自身免疫性耳病的全球趋势分析、机理洞察和未来发展方向:基于过去 20 年的综合研究成果。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-11-08 DOI: 10.1016/j.autrev.2024.103679
Yu-Chen Liu , Yi-Pin Yang , Yan-Xun Han , Bing-Yu Liang , Zi-Hui Xie , Yu-Chen Zhang , Xi-Xi Chen , Shu-Jia Sang , Fen-Fen Li , Ke Han , Zi-Yue Fu , Si-Yue Yin , Lei Zhang , Shan-Wen Chen , Fan Cao , Bu-Sheng Tong , Hai-Feng Pan , Ye-Hai Liu
<div><h3>Background</h3><div>In recent years, Autoimmune diseases (ADs) and hearing loss are both significant public health burdens worldwide. An increasing number of studies are focusing on the potential link between these two diseases and exploring how hearing loss can be prevented and treated in the context of autoimmune diseases. In response to this focus, it is very necessary to conduct bibliometric analysis and molecular mechanism exploration to provide guidance for the exploration of basic mechanisms and clinical management.</div></div><div><h3>Method</h3><div>Studies focusing on hearing loss and autoimmune disease were extracted from the Web of Science Core Collection database from 2000 to 2024. Bibliometric and visual analysis of the collected publications was conducted using VOSviewer and CiteSpace. The investigation of molecular pathways associated with diseases was carried out in the GeneCards and STRING databases.</div></div><div><h3>Results</h3><div>A total of 696 papers met the inclusion and exclusion criteria and were chosen for further research. The number of papers on hearing loss and autoimmune diseases is increasing every year. These papers were mainly from 65 countries, led by the United States, China and Italy. These investigations included 3505 authors in total, with Greco A contributing the most publications. Harvard Medical School and Sapienza University Rome were the two institutions with the highest number of publications. Otology & Neurotology was the journal with the highest number of publications. The most common keywords include “ sensorineural hearing loss”, “endolymphatic hydrops”, “management” and “autoimmune”, which represent current and prospective future research trends and target topics in the field. Among them, the highest proportion of hearing loss in autoimmune ear diseases is sensorineural hearing loss, and the highest proportion of primary autoimmune ear diseases is Autoimmune inner ear disease. In addition, A total of 295 potential targets common to both diseases were also identified. Their pathogenesis involves cancer pathways, infectious disease pathways, cell senescence, epithelial and myocyte proliferation, hypoxia response, and inflammatory response.</div></div><div><h3>Conclusion</h3><div>This bibliometric analysis reveals global research trends on hearing loss in the context of autoimmune diseases. Based on this, combined with preliminary bioinformatics analysis, a potential yet close link between the autoimmune diseases and hearing loss has been demonstrated. The current study highlights the need to fully consider the common genetic and pathophysiological mechanisms of these two types of diseases to promote interdisciplinary research and the development of personalized treatments for this clinical focus, with particular attention to the elderly population with comorbidity diseases. A deeper understanding of disease mechanisms has also led to advances in the clinical management of autoimmune
背景:近年来,自身免疫性疾病(ADs)和听力损失都是全球公共卫生的重大负担。越来越多的研究开始关注这两种疾病之间的潜在联系,并探索如何在自身免疫性疾病的背景下预防和治疗听力损失。针对这一焦点,非常有必要进行文献计量分析和分子机制探索,为基础机制探索和临床治疗提供指导:方法:从 Web of Science Core Collection 数据库中提取 2000 年至 2024 年有关听力损失和自身免疫性疾病的研究。使用 VOSviewer 和 CiteSpace 对收集到的出版物进行文献计量和可视化分析。在 GeneCards 和 STRING 数据库中调查了与疾病相关的分子通路:共有 696 篇论文符合纳入和排除标准,并被选作进一步研究。有关听力损失和自身免疫性疾病的论文数量逐年增加。这些论文主要来自 65 个国家,其中以美国、中国和意大利为首。这些调查共涉及 3505 位作者,其中 Greco A 发表的论文最多。哈佛大学医学院和罗马萨皮恩扎大学是发表论文数量最多的两个机构。耳科学与神经病学》是发表论文数量最多的期刊。最常见的关键词包括 "感音神经性听力损失"、"内淋巴水肿"、"管理 "和 "自身免疫",这些关键词代表了该领域当前和未来的研究趋势和目标主题。其中,自身免疫性耳病中听力损失比例最高的是感音神经性听力损失,原发性自身免疫性耳病中比例最高的是自身免疫性内耳疾病。此外,还发现了这两种疾病共有的 295 个潜在靶点。它们的发病机制涉及癌症途径、传染病途径、细胞衰老、上皮细胞和肌细胞增殖、缺氧反应和炎症反应:这项文献计量分析揭示了自身免疫性疾病背景下听力损失的全球研究趋势。在此基础上,结合初步的生物信息学分析,证明了自身免疫性疾病与听力损失之间潜在而密切的联系。目前的研究强调,有必要充分考虑这两类疾病的共同遗传和病理生理机制,以促进跨学科研究,并针对这一临床重点开发个性化治疗方法,尤其要关注患有合并症的老年人群。对疾病机理的深入了解也推动了自身免疫性耳病临床管理的进步,包括诊断和治疗。
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引用次数: 0
The evaluation of type I interferon score in dermatomyositis, a systematic review and a meta-analysis 皮肌炎 I 型干扰素评分的评估、系统综述和荟萃分析。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-11-07 DOI: 10.1016/j.autrev.2024.103686
Chiara Castellini , Claudia Scotti , Luca Navarini , Qiong Fu , Jinjing Qian , Roberto Giacomelli , Lorenzo Cavagna , Piero Ruscitti
Dermatomyositis (DM) is a rare autoimmune systemic disorder manifesting with typical skin rashes and proximal muscle weakness. A specific clinical DM subset is characterized by the presence of the anti–melanoma differentiation–associated protein 5 (MDA5) autoantibodies. These patients are usually burdened by a severe clinical phenotype exhibiting a poor prognosis. Interestingly, a growing body of evidence has shown that (interferon) IFN signature evaluation by the assessment of type I IFN score could be a possible mechanistic biomarker for these more severe patients with DM. Thus, in this work, the difference in type I IFN score between patients with DM and healthy controls (HCs), lacking systematic synthesis of available evidence, was assessed. Moreover, the possible difference in type I IFN score between patients with DM with or without MDA5 autoantibodies was investigated.
A systematic review with a meta-analysis of available literature about values of type I IFN was performed in DM and HCs. A literature search was carried out in MEDLINE, SCOPUS, and WEB OF SCIENCE databases to identify all possible relevant studies published up to May 2024 in English language.
Four studies met the inclusion criteria, comparing type I IFN score between patients with DM and HCs, or between patients with or without anti-MDA5 autoantibodies. The type I IFN score was significantly higher in patients affected by DM when compared with HCs (pooled SMD = 2.27; 95 % CI: 0.71, 3.82; p = 0.004, I2 = 96 %, pfor heterogeneity < 0.00001) and in patients with anti-MDA5 autoantibodies than those without (pooled SMD = 0.88; 95 % CI: 0.06, 1.70; p = 0.03, I2 = 83 %, pfor heterogeneity = 0.01).
In this systematic review and meta-analysis, higher values of type I IFN score were retrieved in patients with DM when compared with HCs and in patients with anti-MDA5 autoantibodies with respect to those without. Thus, the assessment of type I IFN score appears to be a valuable mechanistic biomarker to clinically profile DM patients, and particularly those with anti-MDA5 autoantibodies.
皮肌炎(Dermatomyositis,DM)是一种罕见的自身免疫性系统疾病,表现为典型的皮疹和近端肌肉无力。临床上有一种特殊的皮肌炎亚型,其特征是存在抗黑色素瘤分化相关蛋白 5(MDA5)自身抗体。这些患者通常临床表现严重,预后不良。有趣的是,越来越多的证据表明,通过评估 I 型 IFN 评分来评估(干扰素)IFN 标志可能是这些病情较重的 DM 患者的一种机理生物标志物。因此,在这项工作中,我们在缺乏对现有证据进行系统综合的情况下,评估了 DM 患者与健康对照组(HCs)之间 I 型 IFN 评分的差异。此外,还研究了有或没有MDA5自身抗体的DM患者的I型IFN得分可能存在的差异。对现有文献中有关 DM 和 HC 的 I 型 IFN 值进行了系统回顾和荟萃分析。我们在 MEDLINE、SCOPUS 和 WEB OF SCIENCE 数据库中进行了文献检索,以确定截至 2024 年 5 月发表的所有可能的相关英文研究。有四项研究符合纳入标准,它们比较了 DM 患者和 HC 患者之间或有无抗 MDA5 自身抗体患者之间的 I 型 IFN 评分。与HCs相比,DM患者的I型IFN得分明显更高(汇总SMD = 2.27; 95 % CI: 0.71, 3.82; p = 0.004, I2 = 96 %, pfor heterogeneity 2 = 83 %, pfor heterogeneity = 0.01)。在该系统综述和荟萃分析中,与 HCs 相比,DM 患者的 I 型 IFN 评分值更高,与无抗 MDA5 自身抗体的患者相比,有抗 MDA5 自身抗体的患者的 I 型 IFN 评分值更高。因此,I型IFN评分的评估似乎是临床分析DM患者,尤其是抗MDA5自身抗体患者的一个有价值的机理生物标志物。
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引用次数: 0
Autoimmune effector mechanisms associated with a defective immunosuppressive axis in immune thrombocytopenia (ITP) 免疫性血小板减少症(ITP)中与免疫抑制轴缺陷有关的自身免疫效应机制。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-11-06 DOI: 10.1016/j.autrev.2024.103677
Qizhao Li , Geneviève Marcoux , Yuefen Hu , Johan Rebetz , Li Guo , Elisabeth Semple , Drew Provan , Shuqian Xu , Ming Hou , Jung Peng , John W. Semple
Immune thrombocytopenia (ITP) is an autoimmune disease characterized by an isolated thrombocytopenia and variable phenotype as some patients suffer no bleeding whilst others have bleeding from mild to severe, which may be fatal. This variability probably reflects the disease's complex pathophysiology; a dysregulated hyperreactive immune effector cell response involving the entire adaptive immune system (e.g. B and T cell subsets) that leads to platelet and megakaryocyte (MK) destruction. It appears that these effector responses are due to a breakdown in immune tolerance, and this is characterized by defects in several immunosuppressive cell types. These include defective T regulatory cells (Tregs), B regulatory cells (Bregs) and Myeloid-derived suppressor cells (MDSC), all of which are all intimately associated with antigen presenting cells (APC) such as dendritic cells (DC). The loss of this immunosuppressive axis allows for the activation of unchecked autoreactive T cells and B cells, leading to the development of autoantibodies and cytotoxic T cells (CTL), which can directly destroy platelets in the periphery and inhibit MK platelet production in the bone marrow (BM). This review will focus on the effector cell mechanisms in ITP and highlight the defective immunosuppressive axis that appears responsible for this platelet-specific immune hyperreactivity.
免疫性血小板减少症(ITP)是一种自身免疫性疾病,其特点是孤立的血小板减少和表型多变,有些患者不会出血,而有些患者则会出血,出血程度从轻微到严重不等,甚至可能致命。这种多变性可能反映了该病复杂的病理生理学;一种失调的高反应性免疫效应细胞反应,涉及整个适应性免疫系统(如 B 细胞和 T 细胞亚群),导致血小板和巨核细胞(MK)破坏。这些效应细胞反应似乎是由于免疫耐受的破坏造成的,其特征是几种免疫抑制细胞类型的缺陷。其中包括有缺陷的 T 调节细胞(Tregs)、B 调节细胞(Bregs)和髓源抑制细胞(MDSC),所有这些细胞都与树突状细胞(DC)等抗原递呈细胞(APC)密切相关。失去这一免疫抑制轴,自体反应性 T 细胞和 B 细胞就会肆意激活,导致自身抗体和细胞毒性 T 细胞(CTL)的产生,从而直接破坏外周血小板并抑制骨髓(BM)中的 MK 血小板生成。本综述将重点讨论 ITP 中的效应细胞机制,并强调造成这种血小板特异性免疫反应过度的免疫抑制轴缺陷。
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引用次数: 0
Neuroimmune communication of the cholinergic system in gut inflammation and autoimmunity 胆碱能系统在肠道炎症和自身免疫中的神经免疫交流。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-11-03 DOI: 10.1016/j.autrev.2024.103678
Namrita Halder, Sourabh Yadav, Girdhari Lal
Neuroimmune communication in the body forms a bridge between two central regulatory systems of the body, i.e., nervous and immune systems. The cholinergic system is a crucial modulatory neurotransmitter in the central and peripheral nervous system. It includes the neurotransmitter acetylcholine (ACh), the enzyme required for the synthesis of ACh (choline acetyltransferase, ChAT), the enzyme required for its degradation (acetylcholinesterase, AChE), and cholinergic receptors (Nicotinic acetylcholine receptors and muscarinic acetylcholine receptors). The cholinergic system in neurons is well known for its role in cognitive function, sensory perception, motor control, learning, and memory processes. It has been shown that the non-neuronal cholinergic system (NNCS) is present in various tissues and immune cells and forms a neuroimmune communications system. In the present review, we discussed the NNCS on immune cells, its role in homeostasis and inflammatory reactions in the gut, and how it can be exploited in treating inflammatory responses.
人体内的神经免疫交流是人体两个中枢调节系统(即神经系统和免疫系统)之间的桥梁。胆碱能系统是中枢和外周神经系统中一种重要的调节神经递质。它包括神经递质乙酰胆碱(ACh)、合成 ACh 所需的酶(胆碱乙酰转移酶,ChAT)、降解 ACh 所需的酶(乙酰胆碱酯酶,AChE)以及胆碱能受体(烟碱乙酰胆碱受体和毒蕈碱乙酰胆碱受体)。神经元中的胆碱能系统在认知功能、感官知觉、运动控制、学习和记忆过程中的作用众所周知。研究表明,非神经元胆碱能系统(NNCS)存在于各种组织和免疫细胞中,并形成神经免疫通讯系统。在本综述中,我们讨论了免疫细胞上的非神经元胆碱能系统、它在肠道平衡和炎症反应中的作用,以及如何利用它来治疗炎症反应。
{"title":"Neuroimmune communication of the cholinergic system in gut inflammation and autoimmunity","authors":"Namrita Halder,&nbsp;Sourabh Yadav,&nbsp;Girdhari Lal","doi":"10.1016/j.autrev.2024.103678","DOIUrl":"10.1016/j.autrev.2024.103678","url":null,"abstract":"<div><div>Neuroimmune communication in the body forms a bridge between two central regulatory systems of the body, i.e., nervous and immune systems. The cholinergic system is a crucial modulatory neurotransmitter in the central and peripheral nervous system. It includes the neurotransmitter acetylcholine (ACh), the enzyme required for the synthesis of ACh (choline acetyltransferase, ChAT), the enzyme required for its degradation (acetylcholinesterase, AChE), and cholinergic receptors (Nicotinic acetylcholine receptors and muscarinic acetylcholine receptors). The cholinergic system in neurons is well known for its role in cognitive function, sensory perception, motor control, learning, and memory processes. It has been shown that the non-neuronal cholinergic system (NNCS) is present in various tissues and immune cells and forms a neuroimmune communications system. In the present review, we discussed the NNCS on immune cells, its role in homeostasis and inflammatory reactions in the gut, and how it can be exploited in treating inflammatory responses.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103678"},"PeriodicalIF":9.2,"publicationDate":"2024-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142581950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) from 2011 to 2024: A comprehensive bibliometric review 2011年至2024年佐剂诱发的自身免疫/炎症综合征(ASIA):文献计量学综述。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-29 DOI: 10.1016/j.autrev.2024.103676
Diego Rajchenberg , Noa Wegerhoff , Yehuda Shoenfeld

Introduction

Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) encompasses a spectrum of autoimmune and inflammatory conditions triggered by various adjuvants, leading to significant health challenges. This study aims to understand the research landscape and future directions of ASIA through a comprehensive bibliometric analysis.

Methods

Relevant original articles were retrieved from the Scopus database, focusing on publications from 2011 to July 2024. The analysis included evaluating countries/regions, institutions, authors, co-cited references, and keywords using VOSviewer and Biblioshiny software.

Results

The final analysis incorporated 346 documents contributed by numerous researchers from multiple institutions worldwide. Israel emerged as the leading contributor to ASIA research. The study found that while there are significant international collaborations, certain countries like Israel and Italy play central roles in these networks. Key research areas identified include autoimmunity, adjuvants, vaccines, and silicone. Notable keywords include “ASIA syndrome,” “Autoimmunity,” “Adjuvants,” and “Silicone.” The citation analysis highlighted the impactful nature of research from Israel, Italy, and Mexico. In addition, the analysis highlights the growing body of evidence that supports the role of adjuvants in triggering autoimmune responses. Over the years, there has been a significant increase in publications investigating the mechanisms by which adjuvants (such as those used in vaccines, silicone implants, and other medical applications) can activate immune responses, leading to conditions associated with ASIA syndrome.

Conclusion

The field of ASIA research is experiencing rapid growth, characterized by increasing publication activity and robust international collaborations. Future research is likely to focus on the mechanisms underlying ASIA syndrome and improving patient outcomes.
导言:佐剂诱发的自身免疫/炎症综合征(ASIA)包括由各种佐剂引发的一系列自身免疫和炎症病症,给人们的健康带来了巨大挑战。本研究旨在通过全面的文献计量分析,了解ASIA的研究现状和未来发展方向:方法:从 Scopus 数据库中检索相关原创文章,重点关注 2011 年至 2024 年 7 月期间的出版物。分析包括使用 VOSviewer 和 Biblioshiny 软件评估国家/地区、机构、作者、共同引用的参考文献和关键词:最终分析纳入了来自全球多个机构的众多研究人员提供的 346 篇文献。以色列是亚洲研究的主要贡献者。研究发现,虽然存在着重要的国际合作,但以色列和意大利等某些国家在这些网络中发挥着核心作用。主要研究领域包括自身免疫、佐剂、疫苗和硅胶。值得注意的关键词包括 "ASIA 综合征"、"自身免疫"、"佐剂 "和 "有机硅"。引文分析强调了以色列、意大利和墨西哥研究的影响力。此外,分析还强调了越来越多的证据支持佐剂在引发自身免疫反应方面的作用。多年来,研究佐剂(如疫苗、硅胶植入物和其他医疗应用中使用的佐剂)可激活免疫反应、导致与ASIA综合症相关的病症的机制的出版物显著增加:ASIA研究领域正在经历快速发展,其特点是论文发表量不断增加,国际合作日益活跃。未来的研究可能会侧重于 ASIA 综合征的发病机制和改善患者预后。
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引用次数: 0
The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back 系统性红斑狼疮的马赛克:从自身免疫到自身炎症和免疫缺陷,再回到自身免疫。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-29 DOI: 10.1016/j.autrev.2024.103675
António Lamas , Raquel Faria , António Marinho , Carlos Vasconcelos
The concept of an “immunological continuum model,” introduced by McGonagle and McDermott in 2006, redefines the traditional dichotomy between autoimmunity and autoinflammation, proposing a spectrum where innate and adaptive immune dysregulation can co-occur, reflecting a more nuanced understanding of immune disorders.
Systemic lupus erythematosus (SLE) exemplifies the complexity of this continuum, often displaying manifestations of autoimmunity, autoinflammation, and immunodeficiency. The interplay between genetic, epigenetic, hormonal, psychological, and environmental factors contributes to its distinctive immunopathological signatures. Historically recognized as a systemic disease with diverse clinical manifestations, SLE is primarily a polygenic autoimmune condition but can, however, present in monogenic forms.
Examining SLE through the lens of the immunological continuum model allows for emphasis on the contributions of both innate and adaptive immunity. SLE and primary immunodeficiencies share genetic susceptibilities and clinical manifestations. Additionally, autoinflammatory mechanisms, such as inflammasome activation and interferonopathies, can play a role in SLE pathogenesis, illustrating the disease's position at the crossroads of immune dysregulation.
Recognizing the diverse clinical expressions of SLE and its mimickers is critical for accurate diagnosis and targeted therapy.
In conclusion, the immunological continuum model provides a comprehensive framework for understanding SLE, acknowledging its multifaceted nature and guiding future research and clinical practice toward more effective and individualized treatments. After the Mosaic of Autoimmunity, it is now the time to focus and attempt to solve the intricate mosaic of SLE.
麦克格纳格(McGonagle)和麦克德莫特(McDermott)于 2006 年提出了 "免疫学连续体模型 "的概念,重新定义了自身免疫和自身炎症之间的传统二分法,提出了一个先天性免疫和适应性免疫失调可能同时存在的谱系,反映了对免疫性疾病更细致入微的理解。系统性红斑狼疮(SLE)体现了这一连续统一体的复杂性,通常表现为自身免疫、自身炎症和免疫缺陷。遗传、表观遗传、荷尔蒙、心理和环境因素之间的相互作用导致了其独特的免疫病理特征。系统性红斑狼疮历来被认为是一种具有多种临床表现的全身性疾病,它主要是一种多基因自身免疫性疾病,但也可能以单基因形式出现。从免疫学连续体模型的角度来审视系统性红斑狼疮,可以强调先天性免疫和适应性免疫的作用。系统性红斑狼疮和原发性免疫缺陷有相同的遗传易感性和临床表现。此外,自身炎症机制(如炎性体激活和干扰素病)也可在系统性红斑狼疮的发病机制中发挥作用,这说明该疾病处于免疫调节失调的十字路口。认识系统性红斑狼疮及其模拟者的不同临床表现对于准确诊断和靶向治疗至关重要。总之,免疫学连续体模型为理解系统性红斑狼疮提供了一个全面的框架,承认了该病的多面性,并指导着未来的研究和临床实践朝着更有效和个体化的治疗方向发展。在 "自身免疫马赛克 "之后,现在是时候聚焦并尝试解决系统性红斑狼疮错综复杂的马赛克问题了。
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引用次数: 0
Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors 斯约格伦综合征:您一直想知道的有关遗传和表观遗传因素的所有信息
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-28 DOI: 10.1016/j.autrev.2024.103673
Carlo Perricone , Lorenza Bruno , Giacomo Cafaro , Andrea Latini , Fulvia Ceccarelli , Paola Borgiani , Cinzia Ciccacci , Dimitrios Bogdanos , Giuseppe Novelli , Roberto Gerli , Elena Bartoloni
Primary Sjögren's syndrome (pSS) is a chronic, systemic autoimmune disease characterized by a wide spectrum of glandular and extra-glandular features. Genetic and epigenetic factors play an important role in the disease susceptibility and phenotype. There are a multitude of genes that have been identified as implicated in the pathogenesis of pSS, both in HLA and extra-HLA regions with a strong contribution given by genes in interferon signalling pathways. Among the HLA alleles, the most consistent associations have been found with DR2 and DR3 alleles at the DRB1 locus. Moreover, several gene variants outside the MHC locus are in genes involved in NF-κB signalling, B- and T-cell function and methylation processes possibly responsible for lymphomagenesis. There is still a lack of knowledge on precise genetic patterns and prediction models of diseases, and data on pharmacogenetics is scarce. A comprehensive summary of the common genetic factors and an extensive analysis of novel epigenetic aspects is provided, together with a view on the relationships between novel therapeutic agents for pSS and genetic targets in signalling pathways, aiming at improving tailored treatment strategies in the view of a more personalized medicine.
原发性斯约格伦综合征(pSS)是一种慢性、全身性自身免疫性疾病,具有广泛的腺体和腺体外特征。遗传和表观遗传因素在疾病的易感性和表型中起着重要作用。已确定有许多基因与 pSS 的发病机制有关,包括 HLA 和 HLA 外区域的基因,其中干扰素信号通路中的基因对 pSS 的发病有很大的影响。在 HLA 等位基因中,与 DRB1 基因座上的 DR2 和 DR3 等位基因的关联最为一致。此外,MHC 基因座之外的一些基因变异涉及 NF-κB 信号、B 细胞和 T 细胞功能以及可能导致淋巴瘤发生的甲基化过程。关于疾病的精确遗传模式和预测模型仍然缺乏了解,药物遗传学方面的数据也很少。本文对常见的遗传因素进行了全面总结,并对新型表观遗传学方面进行了广泛分析,同时还探讨了 pSS 新型治疗药物与信号通路中遗传靶点之间的关系,旨在改进定制治疗策略,实现更加个性化的医疗。
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引用次数: 0
Global burden due to modifiable risk factors for autoimmune diseases, 1990–2021: Temporal trends and socio-demographic inequalities 1990-2021 年可改变的自身免疫性疾病风险因素造成的全球负担:时间趋势和社会人口不平等。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-24 DOI: 10.1016/j.autrev.2024.103674
Shi-Yang Guan , Jin-Xin Zheng , Xin-Yu Feng , Shun-Xian Zhang , Shu-Zhen Xu , Peng Wang , Hai-Feng Pan
<div><h3>Background</h3><div>Autoimmune diseases arise from a combination of non-modifiable risk factors, such as gender and genetic predispositions, and modifiable factors, including lifestyle choices and environmental exposures. Given the potential to alter modifiable risk factors, this study aims to evaluate the global burden, temporal trends, and inequalities of autoimmune diseases attributed to modifiable risk factors from 1990 to 2021. The study will provide up-to-date evidence to inform strategies for mitigating the impact of these risk factors on autoimmune diseases worldwide.</div></div><div><h3>Methods</h3><div>Data on the global burden of autoimmune diseases attributed to modifiable risk factors were obtained from the Global Burden of Diseases study 2021. Temporal trends in age standardized disability-adjusted life-years (DALYs) rates were evaluated by estimated annual percentage changes (EAPC). Spearman rank correlation test was used to explore the association between two variables. Slope index of inequality (SII) and concentration index (CI) were used to evaluated the absolute and relative inequalities in DALY rates and numbers, respectively.</div></div><div><h3>Results</h3><div>From 1990 to 2021, type 1 diabetes mellitus (T1DM) due to high temperature has shown an increasing trend in global age standardized DALY rates (EAPC = 0.88, 0.58 to 1.18), whereas all other autoimmune diseases due to specific risk factors have generally exhibited decreasing trends. Across Socio-demographic Index (SDI) quintiles, notable increases were observed in high SDI countries for T1DM due to high temperature (EAPC = 1.36, 0.92 to 1.80), in low and low-middle SDI countries for multiple sclerosis (MS) due to smoking (EAPC = 0.25, 0.23 to 0.27; 0.22, 0.21 to 0.23, respectively), and in low-middle SDI countries for asthma due to high body-mass index (BMI) (EAPC = 0.25, 0.20 to 0.29). In 2021, significant positive associations were observed between SDI and age-standardized DALY rates for rheumatoid arthritis (RA) and MS due to smoking, as well as T1DM due to low temperatures across 204 countries and territories (all <em>P</em> < 0.05). In contrast, all other autoimmune diseases attributed to certain risk factors exhibited significant negative associations (all <em>P</em> < 0.05). Women displayed higher global age-standardized DALY rates for asthma due to high BMI (44.1 per 100,000 population), while men exhibited higher global age-standardized DALY rates for all other autoimmune diseases due to specific risk factors. Except for narrowed inequalities in DALY rates for asthma due to smoking (SII = 20.4, 13.0 to 27.8 in 1990 to 6.7, 2.8 to 10.6 in 2021) and in DALY numbers for asthma due to high BMI (CI = 17.3, 24.5 to 9.5 in 1990 to −0.3, 8.2 to −8.6 in 2021), both absolute and relative SDI-related inequalities have remained stable for all other autoimmune diseases linked to specific risk factors.</div></div><div><h3>Conclusions</h3><div>Over the past th
背景:自身免疫性疾病是由性别和遗传倾向等不可改变的风险因素以及生活方式选择和环境暴露等可改变的因素共同造成的。考虑到改变可改变风险因素的潜力,本研究旨在评估 1990 年至 2021 年间可改变风险因素导致的自身免疫性疾病的全球负担、时间趋势和不平等现象。这项研究将提供最新证据,为减轻这些风险因素对全球自身免疫性疾病的影响的战略提供依据:方法:从《2021 年全球疾病负担研究》(Global Burden of Diseases study 2021)中获得了关于可改变风险因素导致的自身免疫性疾病全球负担的数据。通过估计年度百分比变化(EAPC)评估了年龄标准化残疾调整生命年(DALYs)比率的时间趋势。斯皮尔曼秩相关检验用于探讨两个变量之间的关联。不平等斜率指数(SII)和集中指数(CI)分别用于评估残疾调整寿命年率和数量的绝对和相对不平等:从 1990 年到 2021 年,高温导致的 1 型糖尿病(T1DM)的全球年龄标准化残疾调整寿命年率呈上升趋势(EAPC = 0.88,0.58 至 1.18),而由特定风险因素导致的所有其他自身免疫性疾病总体上呈下降趋势。在社会人口指数(SDI)五分位数中,高 SDI 国家因高温导致的 T1DM 发病率显著上升(EAPC = 1.36,0.92 至 1.80),低 SDI 国家和低 SDI 国家的 T1DM 发病率则显著下降(EAPC = 0.88,0.58 至 1.18)。在低 SDI 和中低 SDI 国家,吸烟会导致多发性硬化症(EAPC = 0.25,0.23 至 0.27;0.22,0.21 至 0.23);在中低 SDI 国家,高体重指数(BMI)会导致哮喘(EAPC = 0.25,0.20 至 0.29)。2021 年,在 204 个国家和地区中,类风湿性关节炎(RA)和多发性硬化症(MS)因吸烟导致的年龄标准化残疾调整寿命年率,以及 T1DM 因低温导致的年龄标准化残疾调整寿命年率,在 SDI 和年龄标准化残疾调整寿命年率之间都出现了明显的正相关(均为 P 结论):在过去的三十年中,除高温导致的 T1DM 外,在降低可改变风险因素导致的自身免疫性疾病的全球年龄标准化残疾调整寿命年数方面取得了重大进展。尽管取得了这些进展,但在这些由风险因素引起的疾病中,大多数与 SDI 相关的不平等现象仍保持稳定,这表明迫切需要制定有针对性的公共卫生战略来解决这些持续存在的不平等现象。
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引用次数: 0
Global analysis of antiphospholipid syndrome and stroke research: identifying emerging trends, international collaborations, and knowledge gaps 致编辑的信:抗磷脂综合征和中风研究的全球文献计量分析:趋势、合作和知识差距。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-23 DOI: 10.1016/j.autrev.2024.103672
Rongxing Qin , Xinyu Lai , Wei Xu , Qingchun Qin , Xiaojun Liang , Minshan Xie , Li Chen
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引用次数: 0
A novel metric of autoimmune disease burden and its estimated incidence across different stages in life cycle of women 衡量自身免疫性疾病负担的新标准及其在女性生命周期不同阶段的估计发病率。
IF 9.2 1区 医学 Q1 IMMUNOLOGY Pub Date : 2024-10-21 DOI: 10.1016/j.autrev.2024.103671
Fan Cao , Hai-Feng Pan , Shengping Hou
<div><h3>Aim</h3><div>To produce a unique metric ‘autoimmune disease (ADs)’ based on various single autoimmune disorder and estimate its case number and age-standardized rate of incidence for each stage in life cycle of women from 1990 to 2019, and to further explore their temporal trends at global, regional, and national levels.</div></div><div><h3>Methods</h3><div>A comprehensive classification for life cycle of women was proposed. The estimates and 95 % uncertainty intervals (UIs) for case number and rate of incidence for rheumatoid arthritis, inflammatory bowel disease, multiple sclerosis, psoriasis, and type 1 diabetes mellitus in all age groups (< 1, 1–4, 5–9, 10–14, 15–19, 20–24, 25–29, ……,80–84, 85–89, 90–94, 95+) were extracted from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2019. ‘ADs’ was defined by combining these five disorders. Age standardization by direct method was utilized to estimate the age-standardized rate (ASR) of incidence of ‘ADs’ for each stage in life cycle of women. Joinpoint regression analysis was adopted to investigate temporal trends of ASR from 1990 to 2019 by calculating annual percentage change (APC) and average APC (AAPC). Associations of incidence in 2019 and change in incidence from 1990 to 2019, with Socio-demographic Index (SDI) were also explored.</div></div><div><h3>Results</h3><div>In 2019, global ASR of incidence of ‘ADs’ in childhood, adolescence, adulthood, senility, women of childbearing age, perimenopause, menopause, and sex mature adults at the best reproductive age were 45.46 (95 % CI: 36.40 to 55.09), 59.97(95 % CI:46.62 to 75.30), 104.45 (95 % CI: 84.55 to 127.79), 129.58 (95 % CI: 105.18 to 157.68), 89.51 (95 % CI: 71.94 to 110.35), 130.92 (95 % CI: 106.98 to 158.16), 132.94 (95 % CI: 108.76 to 160.90) and 85.78 (95 % CI: 68.72 to 106.37), respectively. Regionally, although ASR in eight life stages differed from distinct geographical areas, the top three highest ASR all occurred in Western Europe, Australasia, and High-income North America. From 1990 to 2019, global ASR in childhood (AAPC: −0.39, [95 % CI: −0.4 to −0.38], <em>p</em> < 0.001), adolescence (AAPC: −0.4, [95 % CI: −0.41 to −0.4], <em>p</em> < 0.001), adulthood (AAPC: −0.53, [95 % CI: −0.55 to −0.51], <em>p</em> < 0.001), senility (AAPC: −0.4, [95 % CI: −0.41 to −0.38], <em>p</em> < 0.001), women of childbearing age (AAPC: −0.53, [95 % CI: −0.55 to −0.5], <em>p</em> < 0.001), perimenopause (AAPC: −0.56, [95 % CI: −0.59 to −0.52], <em>p</em> < 0.001), menopause (AAPC: −0.56, [95 % CI: −0.59 to −0.53], <em>p</em> < 0.001), and sex mature adults at the best reproductive age (AAPC: −0.5, [95 % CI: −0.51 to −0.49], <em>p</em> < 0.001) all significantly decreased. Nationally, ASR and its temporal trends in eight life stages varied significantly across 204 countries and territories. Additionally, incidence in 2019 and change in incidence from 1990 to 2019 were positively correlated with
目的:根据各种单一的自身免疫性疾病,建立一个独特的指标 "自身免疫性疾病(ADs)",并估算1990年至2019年女性生命周期各阶段的病例数和年龄标准化发病率,进一步探讨其在全球、地区和国家层面的时间趋势:方法:提出了妇女生命周期的综合分类。类风湿性关节炎、炎症性肠病、多发性硬化症、银屑病和 1 型糖尿病在所有年龄组(< 1、1-4、5-9、10-14、15-19、20-24、25-29、......、80-84、85-89、90-94、95+)的病例数和发病率的估计值和 95 % 的不确定性区间(UIs)均来自《2019 年全球疾病负担、伤害和风险因素研究》(GBD)。ADs "的定义综合了这五种疾病。采用直接法进行年龄标准化,以估算女性生命周期各阶段的 "ADs "年龄标准化发病率(ASR)。通过计算年度百分比变化(APC)和平均APC(AAPC),采用连接点回归分析法研究1990年至2019年ASR的时间趋势。此外,还探讨了 2019 年发病率以及 1990 年至 2019 年发病率变化与社会人口指数(SDI)的关联:结果:2019 年,全球儿童期、青少年期、成年期、老年期、育龄妇女期、围绝经期、更年期和最佳育龄期性成熟成人 "ADs "发病率的 ASR 分别为 45.46(95 % CI:36.40 至 55.09)、59.97(95 % CI:46.62至75.30)、104.45(95 % CI:84.55至127.79)、129.58(95 % CI:105.18至157.68)、89.51(95 % CI:71.94至110.35)、130.92(95 % CI:106.98至158.16)、132.94(95 % CI:108.76至160.90)和85.78(95 % CI:68.72至106.37)。从地区上看,虽然八个生命阶段的年均死亡率因不同的地理区域而异,但年均死亡率最高的前三位均出现在西欧、大洋洲和高收入的北美地区。各国自身免疫性疾病的发病率存在显著的异质性,社会人口发展水平越高,负担越重,这表明根据社会人口状况制定灵活的卫生政策和有针对性的资源分配对每个国家都至关重要。
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引用次数: 0
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Autoimmunity reviews
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