Autoimmunity reviews最新文献

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Complement-coagulation crosstalk in idiopathic membranous nephropathy: The potential pathogenesis and therapeutic perspective 特发性膜性肾病中的补体-凝血串扰:潜在的发病机制和治疗前景。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-02-04 DOI: 10.1016/j.autrev.2025.103763
Zikang Liu , Wei Liang , Yangbin Pan
{"title":"Complement-coagulation crosstalk in idiopathic membranous nephropathy: The potential pathogenesis and therapeutic perspective","authors":"Zikang Liu ,&nbsp;Wei Liang ,&nbsp;Yangbin Pan","doi":"10.1016/j.autrev.2025.103763","DOIUrl":"10.1016/j.autrev.2025.103763","url":null,"abstract":"<div><div>Idiopathic membranous nephropathy (IMN) is a glomerular disease that is prevalent in elderly males. The pathogenesis of IMN includes abnormal autoimmunity and complement activation, both of which leading to the damage of the glomerular filtration structure. Meanwhile, due to the pathological changes in the kidney, certain coagulation-related proteins are leaked from urine, resulting in the imbalance of coagulation homeostasis. Recent studies have indicated the interaction between complement and coagulation systems, while the aberration of both is common in IMN. In this review, we summarize the subsistent and underlying pathogenesis that ensue from complement-coagulation crosstalk and present the emerging evidence in this evolving field.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 5","pages":"Article 103763"},"PeriodicalIF":9.2,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363445","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}
引用次数: 0
Immunomodulation for accelerated atherosclerosis in rheumatoid arthritis and systemic lupus erythematosus 类风湿关节炎和系统性红斑狼疮加速动脉粥样硬化的免疫调节。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-02-01 DOI: 10.1016/j.autrev.2025.103760
Elena Bartoloni , Fabio Cacciapaglia , Gian Luca Erre , Elisa Gremese , Andreina Manfredi , Matteo Piga , Garifallia Sakellariou , Francesca Romana Spinelli , Ombretta Viapiana , Fabiola Atzeni
{"title":"Immunomodulation for accelerated atherosclerosis in rheumatoid arthritis and systemic lupus erythematosus","authors":"Elena Bartoloni ,&nbsp;Fabio Cacciapaglia ,&nbsp;Gian Luca Erre ,&nbsp;Elisa Gremese ,&nbsp;Andreina Manfredi ,&nbsp;Matteo Piga ,&nbsp;Garifallia Sakellariou ,&nbsp;Francesca Romana Spinelli ,&nbsp;Ombretta Viapiana ,&nbsp;Fabiola Atzeni","doi":"10.1016/j.autrev.2025.103760","DOIUrl":"10.1016/j.autrev.2025.103760","url":null,"abstract":"<div><div>In the last decades, consisting evidence supported a close relationship between both innate and adaptive immune systems and the accelerated cardiovascular (CV) disease characterizing autoimmune diseases, such as systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Indeed, several cell lines involved in the pathogenesis of these autoimmune diseases, such as macrophages and dendritic cells, as well as different T and B lymphocyte subsets, and inflammatory cytokines, have been demonstrated to be directly involved in the mechanisms underlying early atherosclerotic arterial wall damage. Traditional CV risk factors play a concomitant role but do not sufficiently account for the increased prevalence of CV disease in these patients. Indeed, the pathophysiological link between RA and SLE and atherosclerosis is based on complex inflammatory pathways that interconnect these conditions and may explain the significant morbidity and mortality rates demonstrated in these patients, with consequent significant negative effects on quality of life and long-term survival. Consequently, it is intriguing to hypothesize that immunosuppressive drugs commonly used in the treatment of these pathologies may also exert an immunomodulatory and anti-inflammatory effect in mitigating the atherosclerotic damage that has been demonstrated to occur early in the initial stages of the disease. Recognizing risk factors, predicting occurrences and early intervention to prevent CV disease development have emerged as critical objectives in RA and SLE treatment. In this review, we aimed to provide an updated overview of the atherogenic effects exerted by the immune and inflammatory pathways involved in the pathogenesis of RA and SLE. Moreover, we examined the available evidence which may support the potential effects of immunosuppressive therapies in reducing CV damage and, consequently, CV disease risk in these patients.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103760"},"PeriodicalIF":9.2,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078513","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics and risk factors for infection in patients with ANCA-associated vasculitis: A systematic review and meta-analysis anca相关性血管炎患者感染的特征和危险因素:一项系统综述和荟萃分析
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103713
Wenxuan Luo , Can Liu , Lei Zhang , Jie Tang , Jie Chen , Yanzao Zhao , Xuemei Huang , Xiaoli Zheng , Long Chen , Chuanmei Xie , Xin Wei , Xiongyan Luo , Anji Xiong
{"title":"Characteristics and risk factors for infection in patients with ANCA-associated vasculitis: A systematic review and meta-analysis","authors":"Wenxuan Luo ,&nbsp;Can Liu ,&nbsp;Lei Zhang ,&nbsp;Jie Tang ,&nbsp;Jie Chen ,&nbsp;Yanzao Zhao ,&nbsp;Xuemei Huang ,&nbsp;Xiaoli Zheng ,&nbsp;Long Chen ,&nbsp;Chuanmei Xie ,&nbsp;Xin Wei ,&nbsp;Xiongyan Luo ,&nbsp;Anji Xiong","doi":"10.1016/j.autrev.2024.103713","DOIUrl":"10.1016/j.autrev.2024.103713","url":null,"abstract":"<div><h3>Objective</h3><div>To summarize the characteristics and risk factors for infection in patients with anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV).</div></div><div><h3>Methods</h3><div>PubMed, Embase, and Cochrane Library databases were searched for relevant articles from database inception to November 2023. The prevalence, odds ratio (OR), and mean difference (MD) with 95 % confidence intervals (CIs) were pooled using a random-effects model. Sensitivity and subgroup analysis were also performed.</div></div><div><h3>Results</h3><div>Forty-one studies with 5343 patients with AAV were included, of whom 2890 patients experienced an infection. The pooled prevalence was 54.6 % (95 % CI, 48.4 % to 61.1 %) for all infections and 35.8 % (95 % CI, 31.0 % to 40.8 %) for severe infections; and prevalence of <em>Pneumocystis jirovecii</em> pneumonia, aspergillosis, candidiasis, cryptococcosis, herpes zoster, cytomegalovirus, and specific bacterial infections were pooled. The respiratory system was the most common infection site, followed by blood, urinary tract, skin and soft tissue, and digestive infections. Risk factors for infection included older age, end-stage renal disease, dialysis, diabetes, smoking, kidney and lung involvement, leukopenia; higher Birmingham Vasculitis Activity Score, and serum creatinine and C-reactive protein levels; and lower hemoglobin levels, and platelet and CD4 counts. In addition, use of cyclophosphamide, steroid pulse therapy, plasma exchange, and higher initial glucocorticoid dose were associated with significantly increased risk of infection.</div></div><div><h3>Conclusion</h3><div>In patients with AAV, therapy should take risk factors for infection into account. Risk factors should be modified wherever possible. Physicians should be familiar with the common infection sites and pathogens, and consider empiric therapy covering common pathogens for life-threatening infections.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103713"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Current landscape of monogenic autoinflammatory actinopathies: A literature review 单基因自身炎症性放线菌病的现状:文献综述。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103715
P. Mertz , V. Hentgen , G. Boursier , J. Delon , S. Georgin-Lavialle
{"title":"Current landscape of monogenic autoinflammatory actinopathies: A literature review","authors":"P. Mertz ,&nbsp;V. Hentgen ,&nbsp;G. Boursier ,&nbsp;J. Delon ,&nbsp;S. Georgin-Lavialle","doi":"10.1016/j.autrev.2024.103715","DOIUrl":"10.1016/j.autrev.2024.103715","url":null,"abstract":"<div><div>Autoinflammatory diseases (AID) are conditions leading to a hyperactivation of innate immunity without any underlying infection, and may be poly- (e.g. Still's disease) or monogenic. The number of monogenic AID is continuously expanding, with the discovery of novel pathologies and pathophysiological mechanisms, facilitated in part by easier access to pangenomic sequencing. Actinopathies with autoinflammatory manifestations represent a newly emerging subgroup of AID, associated with defects in the regulation of actin cytoskeleton dynamics. These diseases typically manifest in the neonatal period and variably combine a primary immunodeficiency of varying severity, cytopenia (particularly thrombocytopenia), autoinflammatory manifestations primarily affecting the skin and digestive system, as well as atopic and autoimmune features.</div><div>Diagnosis should be considered primarily when encountering an early-onset autoinflammatory skin and digestive disorder, along with a primary immunodeficiency and either thrombocytopenia or a bleeding tendency. Some of these diseases exhibit specific features, such as a risk of macrophage activation syndrome (MAS) or a predisposition to atopy or lymphoproliferation. The complete pathophysiology of these diseases is not yet fully understood, and further studies are required to elucidate the underlying mechanisms, which could guide therapeutic choices. In most cases, the severity of the conditions necessitates allogeneic marrow transplantation as a treatment option.</div><div>In this review, we discuss these novel diseases, providing a practical approach based on the main associated biological abnormalities and specific clinical characteristics, with a special focus on the newly described actinopathies <em>DOCK11</em> and <em>ARPC5</em> deficiency. Nonetheless, genetic testing remains essential for definitive diagnosis, and various differential diagnoses must be considered.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103715"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Targeting interleukin-6 pathways in giant cell arteritis management: A narrative review of evidence 靶向白细胞介素-6途径在巨细胞动脉炎管理:证据的叙述性回顾。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103716
Maxime Samson , Bhaskar Dasgupta , Anthony M. Sammel , Carlo Salvarani , Christian Pagnoux , Rula Hajj-Ali , Wolfgang A. Schmidt , Maria C. Cid
{"title":"Targeting interleukin-6 pathways in giant cell arteritis management: A narrative review of evidence","authors":"Maxime Samson ,&nbsp;Bhaskar Dasgupta ,&nbsp;Anthony M. Sammel ,&nbsp;Carlo Salvarani ,&nbsp;Christian Pagnoux ,&nbsp;Rula Hajj-Ali ,&nbsp;Wolfgang A. Schmidt ,&nbsp;Maria C. Cid","doi":"10.1016/j.autrev.2024.103716","DOIUrl":"10.1016/j.autrev.2024.103716","url":null,"abstract":"<div><div>Giant cell arteritis (GCA) is a chronic inflammatory vasculitis with a significant impact on vascular and patient health. It may present with non-specific symptoms and can lead to severe complications if not managed effectively. This narrative review explores the treatment of GCA with interleukin-6 (IL-6) pathway inhibitors, focusing on key studies from selected databases published between 2018 and 2024. The findings reveal that the current treatment primarily involves glucocorticoids (GCs), but their long-term use is associated with adverse effects. Targeting the IL-6 pathway offers therapeutic benefits by reducing inflammation and sparing GC use. Tocilizumab, a humanized immunoglobulin G1κ monoclonal antibody that blocks the IL-6 receptor, has demonstrated efficacy in achieving sustained remission and improving quality of life in people with GCA. However, challenges remain in understanding the optimal duration of therapy, managing relapse upon discontinuation, and addressing long-term structural vascular outcomes. Additional research is needed to further elucidate the complex pathogenesis of GCA and to optimize treatment strategies to achieve sustained remission both clinically and histologically while minimizing adverse effects. This review provides a comprehensive overview of the evidence of IL-6 inhibition in GCA management, highlighting both its therapeutic benefits and the challenges associated with its use.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103716"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791026","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}
引用次数: 0
Differences in clinical phenotype, laboratory, and imaging manifestations between AQP4 IgG positive and AQP4 MOG IgG double negative NMOSD: How to correctly diagnose the two AQP4 IgG阳性与AQP4 MOG IgG双阴性NMOSD的临床表型、实验室及影像学表现差异:如何正确诊断两者
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2025.103761
Fengna Chu , Mingchao Shi , Jie Zhu
{"title":"Differences in clinical phenotype, laboratory, and imaging manifestations between AQP4 IgG positive and AQP4 MOG IgG double negative NMOSD: How to correctly diagnose the two","authors":"Fengna Chu ,&nbsp;Mingchao Shi ,&nbsp;Jie Zhu","doi":"10.1016/j.autrev.2025.103761","DOIUrl":"10.1016/j.autrev.2025.103761","url":null,"abstract":"<div><div>Neuromyelitis optica spectrum disorders (NMOSD) is an uncommon autoimmune inflammatory demyelinating disorder of the central nervous system (CNS) and causes severe disability and even death. Aquaporin-4 immunoglobulin G (AQP4-IgG) antibody has been confirmed as the key pathogenic factor for development of NMOSD and leading to repeatting acute attacks. However, 20–40 % of NMOSD patients lack both AQP4-IgG and anti-myelin oligodendrocytes glycoproteins (MOG) IgG, in which the pathogenic factor is still unclear. There are differences in clinical, laboretory and imaiging minifestations between AQP4-IgG positive (AQP4-IgG<sup>+</sup>) and AQP4-IgG/MOG-IgG double negative (AQP4-IgG<sup>−</sup>) NMOSD. Although the treatments applied in NMOSD have made great progress, all treatments are failed in AQP4-IgG<sup>−</sup> patients. Additionally, it is hard to identify NMOSD with AQP4-IgG<sup>−</sup> from multiple sclerosis (MS). Therefore, it is suspected and challenged that AQP4-IgG could not be the only pathogenic factor in NMOSD or NMOSD with AQP4-IgG<sup>−</sup> may be a separate disorder independent of NMOSD AQP4-IgG<sup>+</sup>? It is necessary to find more pathogenic factors and to explore the new pathogenesis and treatments of NMOSD with AQP4-IgG<sup>−</sup> in the future, which has been a serious problem to be addressed by the neurology community.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103761"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Anti-vitamin D antibodies 抗维生素D抗体。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103718
Jozélio Freire de Carvalho , Thelma L. Skare , Ana Tereza Amoedo Martinez , Yehuda Shoenfeld
{"title":"Anti-vitamin D antibodies","authors":"Jozélio Freire de Carvalho ,&nbsp;Thelma L. Skare ,&nbsp;Ana Tereza Amoedo Martinez ,&nbsp;Yehuda Shoenfeld","doi":"10.1016/j.autrev.2024.103718","DOIUrl":"10.1016/j.autrev.2024.103718","url":null,"abstract":"<div><h3>Background</h3><div>Low vitamin D levels are commonly observed in autoimmune diseases, suggesting a potential role in disease pathogenesis. The presence of anti-vitamin D antibodies may contribute to these deficiencies and influence autoimmune processes.</div></div><div><h3>Objective</h3><div>To review and analyze studies investigating the occurrence of anti-vitamin D antibodies in autoimmune diseases.</div></div><div><h3>Results</h3><div>Three studies, comprising a total of 345 patients, were reviewed. The autoimmune conditions included systemic lupus erythematosus (SLE), scleroderma (SSc), primary antiphospholipid antibody syndrome (pAPS), and pemphigus vulgaris (PV). Patient mean ages ranged from 26.8 to 31 years, with the proportion of female participants ranging from 87 % to 96 %. The duration of disease varied between 6.3 and 12.3 years. Serum vitamin D levels ranged from 11.71 ± 7.21 to 28.4 ± 9.6 ng/mL, with 57.1 % to 82.1 % of patients presenting vitamin D deficiency. The prevalence of anti-vitamin D antibodies was reported as follows: 87 % in SSc, 11 % in PV, 4 % to 6.1 % in SLE, and 3.5 % in pAPS. Associations with other disease markers were also noted: in SLE, anti-vitamin D antibodies were associated with anti-dsDNA antibodies; while in SSc, their presence was linked to the disease itself.</div></div><div><h3>Conclusion</h3><div>Anti-vitamin D antibodies were identified in 3.5 % to 87 % of patients with SLE, SSc, pAPS, and PV. These antibodies are associated either with the autoimmune condition itself or with other autoantibodies, suggesting their potential role in disease mechanisms and progression.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103718"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142799346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic and genomic associations in antiphospholipid syndrome: A systematic review 抗磷脂综合征的遗传和基因组关联:系统综述。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103712
Joseph Zouein , Nabih Naim , Diane M. Spencer , Thomas L. Ortel
{"title":"Genetic and genomic associations in antiphospholipid syndrome: A systematic review","authors":"Joseph Zouein ,&nbsp;Nabih Naim ,&nbsp;Diane M. Spencer ,&nbsp;Thomas L. Ortel","doi":"10.1016/j.autrev.2024.103712","DOIUrl":"10.1016/j.autrev.2024.103712","url":null,"abstract":"<div><h3>Background</h3><div>Numerous genes have been associated with APS in the literature. In recent years, microRNA (miRNA) and long non-coding RNA (lncRNA) have also been shown to modulate the expression of APS-related genes.</div></div><div><h3>Objective</h3><div>We performed a systematic review to identify all studies reporting on genetic mechanisms that have been shown to be associated with APS.</div></div><div><h3>Methods</h3><div>An extensive literature search was performed in the PubMed, Cochrane and Web of Science databases gathering all available articles through February 2024. We only selected case-control studies that met inclusion criteria and that focused on genetic contributors and modifiers related to primary APS.</div></div><div><h3>Results</h3><div>Sixty studies were selected for data extraction. Selected studies were grouped into 8 broad categories for review and analysis: (1) gene expression studies; (2) thrombophilia genotypes; (3) single nucleotide polymorphisms (SNPs); (4) interferon-inducible genes; (5) microRNA studies; (6) long non-coding RNA (lncRNA) studies; (7) DNA methylation studies; and (8) differential gene expression studies. Several genes have been identified as associated with APS by more than one approach, including <em>TF</em>, complement associated genes, and interferon-inducible genes. It has been demonstrated that miRNA and lncRNA may alter the expression of important genes in patients with APS.</div></div><div><h3>Conclusion</h3><div>This systematic review has helped highlight important genes implicated in APS. Most importantly, pathways such as thrombosis/hemostasis, complement and interferon appear to be involved. Further studies are needed to help uncover important genes that could serve as biomarkers.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103712"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142765916","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Caspase family in autoimmune diseases 自身免疫性疾病中的Caspase家族。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103714
Wangzheqi Zhang , Huang Wu , Yan Liao , Chenglong Zhu , Zui Zou
{"title":"Caspase family in autoimmune diseases","authors":"Wangzheqi Zhang ,&nbsp;Huang Wu ,&nbsp;Yan Liao ,&nbsp;Chenglong Zhu ,&nbsp;Zui Zou","doi":"10.1016/j.autrev.2024.103714","DOIUrl":"10.1016/j.autrev.2024.103714","url":null,"abstract":"<div><div>Programmed cell death (PCD) plays a crucial role in maintaining tissue homeostasis, with its primary forms including apoptosis, pyroptosis, and necroptosis. The caspase family is central to these processes, and its complex functions across different cell death pathways and other non-cell death roles have been closely linked to the pathogenesis of autoimmune diseases. This article provides a comprehensive review of the role of the caspase family in autoimmune diseases such as rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), type 1 diabetes (T1D), and multiple sclerosis (MS). It particularly emphasizes the intricate functions of caspases within various cell death pathways and their potential as therapeutic targets, thereby offering innovative insights and a thorough discussion in this field. In terms of therapy, strategies targeting caspases hold significant promise. We emphasize the importance of a holistic understanding of caspases in the overall concept of cell death, exploring their unique functions and interrelationships across multiple cell death pathways, including apoptosis, pyroptosis, necroptosis, and PANoptosis. This approach transcends the limitations of previous studies that focused on singular cell death pathways. Additionally, caspases play a key role in non-cell death functions, such as immune cell activation, cytokine processing, inflammation regulation, and tissue repair, thereby opening new avenues for the treatment of autoimmune diseases. Regulating caspase activity holds the potential to restore immune balance in autoimmune diseases. Potential therapeutic approaches include small molecule inhibitors (both reversible and irreversible), biological agents (such as monoclonal antibodies), and gene therapies. However, achieving specific modulation of caspases to avoid interference with normal physiological functions remains a major challenge. Future research must delve deeper into the regulatory mechanisms of caspases and their associated complexes linked to PANoptosis to facilitate precision medicine. In summary, this article offers a comprehensive and in-depth analysis, providing a novel perspective on the complex roles of caspases in autoimmune diseases, with the potential to catalyze breakthroughs in understanding disease mechanisms and developing therapeutic strategies.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103714"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142784088","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature 系统性红斑狼疮以外的 A20 单倍体缺乏诊断:文献系统回顾。
IF 9.2 1区 医学
Autoimmunity reviews Pub Date : 2025-01-31 DOI: 10.1016/j.autrev.2024.103722
Rémi Philip , Inès Elhani , Sophie Gallou , Hubert De Boysson , Nicolas Martin Silva , Sophie Georgin-Lavialle , Samuel Deshayes , Achille Aouba
{"title":"A20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature","authors":"Rémi Philip ,&nbsp;Inès Elhani ,&nbsp;Sophie Gallou ,&nbsp;Hubert De Boysson ,&nbsp;Nicolas Martin Silva ,&nbsp;Sophie Georgin-Lavialle ,&nbsp;Samuel Deshayes ,&nbsp;Achille Aouba","doi":"10.1016/j.autrev.2024.103722","DOIUrl":"10.1016/j.autrev.2024.103722","url":null,"abstract":"<div><div>Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (<em>TNFAIP3)</em> variants. Besides the mainly auto-inflammatory phenotypic expression of HA20 mimicking Behçet's disease spectrum, some of its clinical and biological manifestations are part of the spectrum of autoimmune diseases, including glomerulonephritis as well as the frequent presence of antinuclear antibodies, sometimes with anti-DNA specificity. Among all the 191 HA20 patients reported in the literature, we identified 16 patients (8.4 %) with a compatible diagnosis of SLE. When estimable, the SLICC 2012 and EULAR/ACR 2019 classification criteria were positive for 92.9 % of them. A majority had multi-system involvement, mainly cutaneous (81.3 %), musculoskeletal (56.3 %), and/or renal (56.3 %) manifestations. They also seemed to exhibit differences compared to other SLE patients: higher prevalence of fever, chronic cutaneous lupus erythematosus, oral and genital ulcers, neuropsychiatric manifestations, autoimmune cytopenia, and elevated biologic inflammatory markers. This review highlights the necessity of considering <em>TNFAIP3</em> variants in SLE patients with early-onset disease, familial history, and/or specific clinical manifestations suggestive of autoinflammatory diseases. Recognizing HA20-SLE patients may improve our understanding of SLE pathogenesis and lead to better therapeutic strategies for these patients.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 2","pages":"Article 103722"},"PeriodicalIF":9.2,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142821856","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}
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