Pub Date : 2024-11-08DOI: 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
{"title":"Global trend analysis, mechanistic insights and future directions of autoimmune ear diseases: Based on comprehensive findings over the past 20 years","authors":"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","doi":"10.1016/j.autrev.2024.103679","DOIUrl":"10.1016/j.autrev.2024.103679","url":null,"abstract":"<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 ","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103679"},"PeriodicalIF":9.2,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613959","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}
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。
{"title":"The evaluation of type I interferon score in dermatomyositis, a systematic review and a meta-analysis","authors":"Chiara Castellini , Claudia Scotti , Luca Navarini , Qiong Fu , Jinjing Qian , Roberto Giacomelli , Lorenzo Cavagna , Piero Ruscitti","doi":"10.1016/j.autrev.2024.103686","DOIUrl":"10.1016/j.autrev.2024.103686","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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; <em>p</em> = 0.004, I<sup>2</sup> = 96 %, p<sub>for heterogeneity</sub> < 0.00001) and in patients with anti-MDA5 autoantibodies than those without (pooled SMD = 0.88; 95 % CI: 0.06, 1.70; <em>p</em> = 0.03, I<sup>2</sup> = 83 %, p<sub>for heterogeneity</sub> = 0.01).</div><div>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.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103686"},"PeriodicalIF":9.2,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-06DOI: 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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Pub Date : 2024-11-03DOI: 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。
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Pub Date : 2024-10-29DOI: 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.
{"title":"Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) from 2011 to 2024: A comprehensive bibliometric review","authors":"Diego Rajchenberg , Noa Wegerhoff , Yehuda Shoenfeld","doi":"10.1016/j.autrev.2024.103676","DOIUrl":"10.1016/j.autrev.2024.103676","url":null,"abstract":"<div><h3>Introduction</h3><div>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.</div></div><div><h3>Methods</h3><div>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.</div></div><div><h3>Results</h3><div>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.</div></div><div><h3>Conclusion</h3><div>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.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103676"},"PeriodicalIF":9.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557029","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}
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.
{"title":"The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back","authors":"António Lamas , Raquel Faria , António Marinho , Carlos Vasconcelos","doi":"10.1016/j.autrev.2024.103675","DOIUrl":"10.1016/j.autrev.2024.103675","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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.</div><div>Recognizing the diverse clinical expressions of SLE and its mimickers is critical for accurate diagnosis and targeted therapy.</div><div>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.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103675"},"PeriodicalIF":9.2,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557030","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}
Pub Date : 2024-10-28DOI: 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.
{"title":"Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors","authors":"Carlo Perricone , Lorenza Bruno , Giacomo Cafaro , Andrea Latini , Fulvia Ceccarelli , Paola Borgiani , Cinzia Ciccacci , Dimitrios Bogdanos , Giuseppe Novelli , Roberto Gerli , Elena Bartoloni","doi":"10.1016/j.autrev.2024.103673","DOIUrl":"10.1016/j.autrev.2024.103673","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103673"},"PeriodicalIF":9.2,"publicationDate":"2024-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142555668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-24DOI: 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
{"title":"Global burden due to modifiable risk factors for autoimmune diseases, 1990–2021: Temporal trends and socio-demographic inequalities","authors":"Shi-Yang Guan , Jin-Xin Zheng , Xin-Yu Feng , Shun-Xian Zhang , Shu-Zhen Xu , Peng Wang , Hai-Feng Pan","doi":"10.1016/j.autrev.2024.103674","DOIUrl":"10.1016/j.autrev.2024.103674","url":null,"abstract":"<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","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103674"},"PeriodicalIF":9.2,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493753","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}
Pub Date : 2024-10-21DOI: 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
{"title":"A novel metric of autoimmune disease burden and its estimated incidence across different stages in life cycle of women","authors":"Fan Cao , Hai-Feng Pan , Shengping Hou","doi":"10.1016/j.autrev.2024.103671","DOIUrl":"10.1016/j.autrev.2024.103671","url":null,"abstract":"<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","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103671"},"PeriodicalIF":9.2,"publicationDate":"2024-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142493755","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}