Autoimmunity reviews最新文献

{"title":"Chromosome aberrations and autoimmunity: Immune-mediated diseases associated with 18p deletion and other chromosomal aberrations","authors":"Camilla Cirone Papa Giannotti ,&nbsp;Renan Rodrigues Neves Ribeiro do Nascimento ,&nbsp;Maria Teresa Terreri ,&nbsp;Luis Eduardo Coelho Andrade ,&nbsp;Sandro Félix Perazzio","doi":"10.1016/j.autrev.2024.103740","DOIUrl":"10.1016/j.autrev.2024.103740","url":null,"abstract":"<div><div>Recent advances in genomic methodologies have significantly enhanced our understanding of immune-mediated rheumatic diseases. Specific structural variants (SVs), such as substantial DNA deletions or insertions, including chromosomal aberrations, have been implicated in diseases of immune dysregulation. Regrettably, SVs are frequently overlooked in next-generation sequencing (NGS) targeted-gene panels, whole exome sequencing (WES) and whole genome sequencing (WGS). In view of a case of chromosome 18p deletion syndrome, characterized by hypogammaglobulinemia and an autoinflammatory phenotype, we provide a comprehensive review on chromosome aberrations associated with multiple immune-mediated conditions, highlighting the clinical aspects of the various chromosome aberrations associated with immune-mediated diseases. Further investigations and development of functional tests should contribute to elucidate the mechanistic connection between chromosome aberrations and Primary Immune Regulatory Disorders (PIRD), bringing novel perspectives in the field of autoinflammatory and autoimmune diseases.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103740"},"PeriodicalIF":9.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926335","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":"Immunometabolic shifts in autoimmune disease: Mechanisms and pathophysiological implications","authors":"Yue Chen ,&nbsp;Qingqing Lin ,&nbsp;Hui Cheng ,&nbsp;Qiyu Xiang ,&nbsp;Wenxian Zhou ,&nbsp;Jinyu Wu ,&nbsp;Xiaobing Wang","doi":"10.1016/j.autrev.2024.103738","DOIUrl":"10.1016/j.autrev.2024.103738","url":null,"abstract":"<div><div>Autoimmune diseases occur when the immune system abnormally attacks the body's normal tissues, causing inflammation and damage. Each disease has unique immune and metabolic dysfunctions during pathogenesis. In rheumatoid arthritis (RA), immune cells have different metabolic patterns and mitochondrial/lysosomal dysfunctions at different disease stages. In systemic lupus erythematosus (SLE), type I interferon (IFN) causes immune cell metabolic dysregulation, linking activation to metabolic shifts that may worsen the disease. In systemic sclerosis (SSc), mitochondrial changes affect fibroblast metabolism and the immune response. Idiopathic inflammatory myopathies (IIMs) patients have mitochondrial and metabolic issues. In primary Sjögren's syndrome (pSS), immune cell metabolism is imbalanced and mitochondrial damage can lead to cell/tissue damage. Metabolic reprogramming links cellular energy needs and immune dysfunctions, causing inflammation, damage, and symptoms in these diseases. It also affects immune cell functions like differentiation, proliferation, and secretion. This review discusses the potential of targeting metabolic pathways to restore immune balance, offering directions for future autoimmune disease research and treatment.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103738"},"PeriodicalIF":9.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913085","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":"Janus-kinase inhibitor use in immune-mediated inflammatory diseases beyond licensed indications: A scoping review","authors":"Dimitris Challoumas ,&nbsp;Cameron Simpson ,&nbsp;Matthew Arnold ,&nbsp;Philip Mease ,&nbsp;Robert Moots ,&nbsp;Mwidimi Ndosi ,&nbsp;Zoe Rutter Locher","doi":"10.1016/j.autrev.2024.103736","DOIUrl":"10.1016/j.autrev.2024.103736","url":null,"abstract":"<div><h3>Introduction</h3><div>The use of Janus kinase inhibitors (JAKis) in immune-mediated inflammatory diseases (IMIDs) beyond licence is expanding rapidly. The aim of this scoping review was to identify and present the available evidence on the efficacy of JAKis in all conditions without marketing authorisation.</div></div><div><h3>Methods</h3><div>Through a systematic literature search we identified studies including 5 or more patients that assessed the use of any JAKi for any efficacy outcome. Quantitative analyses in the form of pairwise meta-analyses were performed for eligible data from randomised controlled trials (RCTs) only.</div></div><div><h3>Results</h3><div>Eighty-three (<em>n</em> = 83) studies in total were included in our review, assessing efficacy of JAKis in 34 IMIDs. In most conditions, JAKis exhibited generally positive effects, though the majority of evidence came from observational, non-comparative studies. Pairwise meta-analyses were possible for hidradenitis suppurativa and systemic lupus erythematosus (SLE). For hidradenitis suppurativa, we found a clear benefit of treatment with JAKis compared with placebo in achieving clinical response [OR 2.35, 95 % CI (1.24 to 4.46)]. For treatment-resistant SLE, the results were equivocal; JAKi showed some benefit over placebo but statistical significance was only reached for one of the two meta-analysed outcome measures [SLE Responder Index 4, OR 1.41, 95 % CI (1.01 to 1.98); SLE Disease Activity Index 2000; OR 1.36, 95 % CI (0.99 to 1.88)].</div></div><div><h3>Conclusions</h3><div>There is a rapidly increasing use of JAKis beyond current licencing in most IMIDs. Large comparative trials are necessary to confirm efficacy and guide future licencing decisions.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103736"},"PeriodicalIF":9.2,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913260","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":"Current state of epigenetics in giant cell arteritis: Focus on microRNA dysregulation","authors":"Luka Bolha ,&nbsp;Alojzija Hočevar ,&nbsp;Vesna Jurčić","doi":"10.1016/j.autrev.2024.103739","DOIUrl":"10.1016/j.autrev.2024.103739","url":null,"abstract":"<div><div>Giant cell arteritis (GCA) is a primary systemic vasculitis affecting the elderly, characterized by a granulomatous vessel wall inflammation of large- and medium-sized arteries. The immunopathology of GCA is complex, involving both the innate and adaptive arms of the immune system, where a maladaptive inflammatory-driven vascular repair process ultimately results in vessel wall thickening, intramural vascular smooth muscle cell proliferation, neovascularization and vessel lumen occlusion, which can lead to serious ischemic complications such as visual loss and ischemic stroke. Over the past decade, microRNA (miRNA) dysregulation has been highlighted as an important contributing factor underlying the pathogenesis of GCA. Since current understanding of miRNA involvement in GCA remains largely based on extrapolation of previously determined miRNA functions in vitro or in loss- or gain-of-function studies, an overall insight into the role of miRNA alteration in GCA pathophysiology remains limited. In this narrative review, we summarize the current knowledge on aberrantly expressed miRNAs in GCA and thoroughly discuss the impact of their altered regulatory role in the context of GCA setting. Furthermore, we address challenges and future perspectives in utilization of miRNA-based diagnostic and prognostic biomarkers of GCA in clinical settings.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103739"},"PeriodicalIF":9.2,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891593","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":"Beyond being a rheumatologist: Environment, climate change, and carbon footprint – We need an action!","authors":"Emre Bilgin","doi":"10.1016/j.autrev.2024.103737","DOIUrl":"10.1016/j.autrev.2024.103737","url":null,"abstract":"","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103737"},"PeriodicalIF":9.2,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142891584","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":"Insights into the complexities of Citrullination: From immune regulation to autoimmune disease","authors":"Jiawei Wang ,&nbsp;Jinlin Miao ,&nbsp;Ping Zhu","doi":"10.1016/j.autrev.2024.103734","DOIUrl":"10.1016/j.autrev.2024.103734","url":null,"abstract":"<div><div>Citrullination, a post-translational modification that changes arginine to citrulline in proteins, is vital for immune response modulation and cell signaling. Catalyzed by peptidyl arginine deiminases (PADs), citrullination is linked to various diseases, particularly autoimmune disorders like rheumatoid arthritis (RA). Citrullinated proteins can trigger the production of anti-citrullinated protein antibodies (ACPAs), included in RA classification criteria. The immune response to citrullination involves both innate and adaptive immunity, affecting monocytes/macrophages, neutrophils, dendritic cells, natural killer cells, B cells, and T cells. Citrullination contributes to disease development in RA and other conditions such as multiple sclerosis, sepsis, and cancer. Therapeutic strategies targeting citrullination and its effects are being explored, including B cell depletion therapies, T cell-directed approaches, PAD inhibitors, and citrullinated peptide-based vaccines. Understanding the interplay between citrullination and the immune system may lead to novel diagnostic tools and targeted therapies for autoimmune diseases and beyond.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103734"},"PeriodicalIF":9.2,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885220","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":"T lymphocyte plasticity in chronic inflammatory diseases: The emerging role of the Ikaros family as a key Th17-Treg switch","authors":"A. Ramón-Vázquez ,&nbsp;P. Flood ,&nbsp;T.L. Cashman ,&nbsp;P. Patil ,&nbsp;S. Ghosh","doi":"10.1016/j.autrev.2024.103735","DOIUrl":"10.1016/j.autrev.2024.103735","url":null,"abstract":"<div><div>T helper (Th) 17 and regulatory T (Treg) cells are highly plastic CD4⁺ Th cell subsets, being able not only to actively adapt to their microenvironment, but also to interconvert, acquiring mixed identity markers. These phenotypic changes are underpinned by transcriptional control mechanisms, chromatin reorganization events and epigenetic modifications, that can be hereditable and stable over time. The Ikaros family of transcription factors have a predominant role in T cell subset specification through mechanisms of transcriptional program regulation that enable phenotypical diversification. They are crucial factors in maintaining Th17/Treg balance and therefore, homeostatic conditions in the tissues. However, they are also implicated in pathogenic processes, where their transcriptional repression contributes to the control of autoimmune processes. In this review, we discuss how T cell fate, specifically in humans, is regulated by the Ikaros family and its interplay with additional factors like the Notch signaling pathway, gut microbiota and myeloid-T cell interactions. Further, we highlight how the transcriptional activity of the Ikaros family impacts the course of T cell mediated chronic inflammatory diseases like rheumatoid and psoriatic arthritis, inflammatory bowel disease, systemic lupus erythematosus and multiple sclerosis. We conclude by discussing recently developed therapeutics designed to target Ikaros family members.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103735"},"PeriodicalIF":9.2,"publicationDate":"2024-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885222","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":"Macrophage metabolic reprogramming: A trigger for cardiac damage in autoimmune diseases","authors":"Lin Liu ,&nbsp;Minghao Li ,&nbsp;Chunyu Zhang ,&nbsp;Yi Zhong ,&nbsp;Bin Liao ,&nbsp;Jian Feng ,&nbsp;Li Deng","doi":"10.1016/j.autrev.2024.103733","DOIUrl":"10.1016/j.autrev.2024.103733","url":null,"abstract":"<div><div>Macrophage metabolic reprogramming has a central role in the progression of autoimmune and auto-inflammatory diseases. The heart is a major target organ in many autoimmune conditions and can sustain functional and structural impairments, potentially leading to irreversible cardiac damage. There is mounting clinical evidence pointing to a link between autoimmune disease and cardiac damage. However, this association remains poorly understood, and numerous patients do not receive appropriate preventive measures, which poses serious cardiovascular risks and significantly impacts their quality of life. This review discusses the relationship between macrophage metabolic reprogramming and cardiac damage in patients with autoimmune diseases and the role of adaptive immunity in macrophage reprogramming. It also provides an overview of the immunosuppressive therapies used at present. Exploiting the properties of macrophage reprogramming could lead to development of novel treatments for patients with autoimmune-related cardiac damage.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103733"},"PeriodicalIF":9.2,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142880917","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":"Crystalline silica on the lung–environment interface: Impact on immunity, epithelial cells, and therapeutic perspectives for autoimmunity","authors":"Gaël Galli ,&nbsp;Damien Leleu ,&nbsp;Agathe Depaire ,&nbsp;Patrick Blanco ,&nbsp;Cécile Contin-Bordes ,&nbsp;Marie-Elise Truchetet","doi":"10.1016/j.autrev.2024.103730","DOIUrl":"10.1016/j.autrev.2024.103730","url":null,"abstract":"<div><div>Crystalline silica (the most abundant form of silicon dioxide) is a natural element that is ubiquitous in the Earth's crust. Chronic personal or professional exposure has been implicated in various pathologies, including silicosis and autoimmune diseases since the early 20th century. More recently, a specific pathogenic role for crystalline silica has been identified through its impact on lung epithelial cells as well as immune cells present at this organism barrier. This review summarizes the current <em>in vitro</em> and <em>in vivo</em> knowledge regarding the physiopathology of crystalline silica at the lung–environment interface, discusses its effects on innate and adaptive immune cells and epithelial cells, and reviews current therapeutic perspectives explored in mouse models to alleviate its impact, especially on autoimmune phenotypes.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103730"},"PeriodicalIF":9.2,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863171","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":"Deucravacitinib shows superior efficacy and safety in cutaneous lupus erythematosus compared to various biologics and small molecules – A systematic review and meta-analysis","authors":"Laura Anna Bokor ,&nbsp;Katalin Martyin ,&nbsp;Máté Krebs ,&nbsp;Noémi Ágnes Galajda ,&nbsp;Fanni Adél Meznerics ,&nbsp;Bence Szabó ,&nbsp;Péter Hegyi ,&nbsp;Kende Lőrincz ,&nbsp;Norbert Kiss ,&nbsp;András Bánvölgyi ,&nbsp;Bernadett Hidvégi","doi":"10.1016/j.autrev.2024.103723","DOIUrl":"10.1016/j.autrev.2024.103723","url":null,"abstract":"<div><h3>Background</h3><div>Novel therapies for cutaneous lupus erythematosus (CLE) and systemic lupus erythematosus (SLE) demonstrated efficacy and safety in previous trials. However, data on the comparison of these treatments is still lacking, limiting their integration into clinical practice. Therefore, our aim is to perform a systematic review and network meta-analysis to compare the efficacy and safety of novel systemic therapies in CLE.</div></div><div><h3>Methods</h3><div>A systematic search was performed across PubMed, Embase, and CENTRAL on November 25, 2023, to identify studies involving patients with CLE or SLE with active skin involvement treated with novel systemic therapies. The primary outcomes assessed were the proportion of patients achieving the Cutaneous Lupus Erythematosus Disease Area and Severity Index-50 (CLASI-50), the change in CLASI-A, the occurrence of adverse events (AEs), and serious adverse events (SAEs).</div></div><div><h3>Results</h3><div>18,280 records were retrieved, of which 53 met the inclusion criteria. Deucravacitinib showed significantly greater efficacy in achieving the CLASI50 compared to placebo (OR: 8.28, 95 % CI: 2.22–30.91). Both litifilimab (OR: 2.54, 95 % CI: 1.20–5.40) and anifrolumab (OR: 2.25, 95 % CI: 1.23–4.14) were also significantly more effective than placebo. No significant differences were observed in the occurrence of AEs and SAEs between these therapeutics and placebo.</div></div><div><h3>Conclusion</h3><div>Anifrolumab and litifilimab are effective and safe treatment options in CLE. However, deucravacitinib demonstrated superior efficacy and safety with fewer adverse events compared to anifrolumab<em>.</em> CLE patients who have shown an inadequate response to first- and second-line treatments may benefit from the incorporation of deucravacitinib into their treatment regimens.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103723"},"PeriodicalIF":9.2,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852383","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}