Autoimmunity reviews最新文献

{"title":"Refining search and keyword strategies in autoimmune ear disease bibliometric studies","authors":"Heng Bai ,&nbsp;Jie Tian","doi":"10.1016/j.autrev.2024.103688","DOIUrl":"10.1016/j.autrev.2024.103688","url":null,"abstract":"<div><div>This study focuses on the search strategies used in bibliometric analyses within the field of autoimmune ear diseases, critically examining ways to improve search accuracy and relevance. Using the study by Liu et al. as an example, we found that the extensive search terms employed resulted in the inclusion of numerous irrelevant studies, weakening the specificity of the research findings. To address this issue, we propose a more precise search strategy using a combination of specific terms and wildcard symbols to ensure the search scope focuses on literature related to autoimmune ear diseases. Additionally, we recommend limiting search terms to titles, abstracts, and author keywords to reduce interference from unrelated literature. Moreover, we identify potential errors in keyword analysis caused by unmerged synonyms and suggest optimizing the accuracy of keyword co-occurrence analysis through synonym merging. This study aims to provide a more reliable methodological guide for future bibliometric analyses, thereby improving the quality and scientific rigor of research on autoimmune ear diseases.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103688"},"PeriodicalIF":9.2,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613913","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}

{"title":"Harnessing the potential of CAR-T cell in lupus treatment: From theory to practice","authors":"Tamim Alsuliman ,&nbsp;Zora Marjanovic ,&nbsp;Doron Rimar ,&nbsp;Karin Tarte ,&nbsp;Tadej Avcin ,&nbsp;Melanie Hagen ,&nbsp;Georg Schett ,&nbsp;Dominique Farge","doi":"10.1016/j.autrev.2024.103687","DOIUrl":"10.1016/j.autrev.2024.103687","url":null,"abstract":"<div><div>Systemic Lupus Erythematosus (SLE) is a rare, heterogeneous, potentially life-threatening autoimmune disease. Presence of kidney or other major organ (brain, heart or lung) involvement are predictors of poor outcome and in a subset of patients resistant to 1st or 2nd line conventional treatment. The 10-year mortality remains around 10–15 %.</div><div>Chimeric Antigen Receptors (CAR) are molecules that allow to redirect the engineered immune cells towards specific target antigens and to simultaneously boost their activation. Following breakthrough results observed in the treatment of hematological malignancies, conventional CAR T-cell therapy has recently been applied to refractory SLE patients. Compared to the use of monoclonal antibodies, anti-CD19 CAR T-cells allow to achieve deeper depletion of autoreactive B cells, notably at site of inflamed tissues and lymphoid organs (i.e. lymph node), to suppress interferon signature and to restore the immune tolerance with the reemergence of naïve B-cells with a new repertoire.</div><div>All clinical data reported in SLE patients so far showed that autologous anti-CD19 CAR T-cell treatment allowed impressive short- and longer-term resolution of lupus nephritis and other severe disease-related manifestations, without major toxicities and only mild cytokine-release syndrome. These clinical effects persisted after B-cell reconstitution and were associated with normalization of double-stranded DNA antibodies and complement levels in drug-free patients until three years after the procedure. Overall, these pioneering experiences show unique clinical and immunological response to CAR T-cell therapy in SLE, and the need for extended follow-up to determine its long-term efficacy.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103687"},"PeriodicalIF":9.2,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613912","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}

{"title":"Autoimmunity, a relevant exclusion criterion in the development of mRNA-based compounds: A systematic review of clinical trials registries","authors":"Larisa Pinte ,&nbsp;Alina Dima ,&nbsp;Anamaria Draghici ,&nbsp;Maria Caraghiulea ,&nbsp;Ioana Andreea Zamfir-Gradinaru ,&nbsp;Cristian Baicus","doi":"10.1016/j.autrev.2024.103670","DOIUrl":"10.1016/j.autrev.2024.103670","url":null,"abstract":"<div><h3>Background</h3><div>Messenger RNA (mRNA) -based compounds have been lately developed as one of the most promising treatment alternatives in a wide range of pathologies, especially cancers and infectious diseases.</div></div><div><h3>Aim</h3><div>To review the current research landscape on mRNA-based compounds, with a focus on the inclusion criteria used for participants with autoimmune diseases and/or under immunosuppressive treatments.</div></div><div><h3>Methods</h3><div>We conducted a comprehensive search based on PICO framework specifically formulated, throughout the most important clinical trial registries: WHO International Clinical Trials Registry Platform (ICTRP) portal, ClinicalTrials.gov, and the Cochrane Central Register of Controlled Trials (CENTRAL), as well as in the Pfizer-BioNTech and Moderna official websites.</div><div>Data extraction followed the CONSORT checklist, focusing on identifying the specific exclusion criteria for individuals with autoimmune diseases and those undergoing various immunosuppressive treatments, including daily dosages, treatment length, and required cessation periods before enrollment.</div><div>We performed descriptive and comparative analyses using statistical tests where applicable.</div><div>This review followed PRISMA guidelines, and the protocol was registered on PROSPERO (CRD42024544811).</div></div><div><h3>Results</h3><div>Out of 2818 study protocols identified, 608 met the eligibility criteria, the vast majority (96.9 %) focusing on non-replicating RNA.</div><div>Most targeted were infectious diseases (66.6 %), primarily COVID-19 (51.3 %), followed by cancers (29.1 %), and other conditions (4.3 %).</div><div>Having an autoimmune disease was used as an exclusion criterion in 60.8 % of trials; higher exclusion rates were observed in studies designed for cancers when compared to those assessing infections or other pathologies (79.1 % vs. 55.3 % vs. 23.1 %, <em>p</em> &lt; 0.001), as well as in those using cell-based when compared to non-cell delivery systems (79.2 % vs. 57.2 %, p &lt; 0.001).</div><div>Further, participants under immunosuppressive treatments were excluded from 77.5 % of the trials, primarily due to corticosteroid use. There is considerable variability in exclusion criteria related to immunosuppressive treatment length and cessation time prior enrollment, as well as in the daily corticosteroid dosage.</div></div><div><h3>Conclusion</h3><div>To the best of our knowledge, this is the first review to document the ongoing research designed for mRNA-based compounds. This work highlights the underrepresentation of patients with autoimmune diseases and those on immunosuppressive treatments in clinical trials assessing mRNA-based compounds.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103670"},"PeriodicalIF":9.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613946","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}

{"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 ,&nbsp;Yi-Pin Yang ,&nbsp;Yan-Xun Han ,&nbsp;Bing-Yu Liang ,&nbsp;Zi-Hui Xie ,&nbsp;Yu-Chen Zhang ,&nbsp;Xi-Xi Chen ,&nbsp;Shu-Jia Sang ,&nbsp;Fen-Fen Li ,&nbsp;Ke Han ,&nbsp;Zi-Yue Fu ,&nbsp;Si-Yue Yin ,&nbsp;Lei Zhang ,&nbsp;Shan-Wen Chen ,&nbsp;Fan Cao ,&nbsp;Bu-Sheng Tong ,&nbsp;Hai-Feng Pan ,&nbsp;Ye-Hai Liu","doi":"10.1016/j.autrev.2024.103679","DOIUrl":"10.1016/j.autrev.2024.103679","url":null,"abstract":"&lt;div&gt;&lt;h3&gt;Background&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Method&lt;/h3&gt;&lt;div&gt;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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Results&lt;/h3&gt;&lt;div&gt;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 &amp; 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.&lt;/div&gt;&lt;/div&gt;&lt;div&gt;&lt;h3&gt;Conclusion&lt;/h3&gt;&lt;div&gt;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}

{"title":"The evaluation of type I interferon score in dermatomyositis, a systematic review and a meta-analysis","authors":"Chiara Castellini ,&nbsp;Claudia Scotti ,&nbsp;Luca Navarini ,&nbsp;Qiong Fu ,&nbsp;Jinjing Qian ,&nbsp;Roberto Giacomelli ,&nbsp;Lorenzo Cavagna ,&nbsp;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, I² = 96 %, p_{for heterogeneity} &lt; 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, I² = 83 %, p_{for heterogeneity} = 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}

{"title":"Autoimmune effector mechanisms associated with a defective immunosuppressive axis in immune thrombocytopenia (ITP)","authors":"Qizhao Li ,&nbsp;Geneviève Marcoux ,&nbsp;Yuefen Hu ,&nbsp;Johan Rebetz ,&nbsp;Li Guo ,&nbsp;Elisabeth Semple ,&nbsp;Drew Provan ,&nbsp;Shuqian Xu ,&nbsp;Ming Hou ,&nbsp;Jung Peng ,&nbsp;John W. Semple","doi":"10.1016/j.autrev.2024.103677","DOIUrl":"10.1016/j.autrev.2024.103677","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"23 12","pages":"Article 103677"},"PeriodicalIF":9.2,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142602959","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}

{"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}

{"title":"Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) from 2011 to 2024: A comprehensive bibliometric review","authors":"Diego Rajchenberg ,&nbsp;Noa Wegerhoff ,&nbsp;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}

{"title":"The mosaic of systemic lupus erythematosus: From autoimmunity to autoinflammation and immunodeficiency and back","authors":"António Lamas ,&nbsp;Raquel Faria ,&nbsp;António Marinho ,&nbsp;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}

{"title":"Sjogren's syndrome: Everything you always wanted to know about genetic and epigenetic factors","authors":"Carlo Perricone ,&nbsp;Lorenza Bruno ,&nbsp;Giacomo Cafaro ,&nbsp;Andrea Latini ,&nbsp;Fulvia Ceccarelli ,&nbsp;Paola Borgiani ,&nbsp;Cinzia Ciccacci ,&nbsp;Dimitrios Bogdanos ,&nbsp;Giuseppe Novelli ,&nbsp;Roberto Gerli ,&nbsp;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}