Autoimmunity reviews最新文献

{"title":"Frequency of autoantibodies and their associated clinical characteristics and outcomes in patients with dilated cardiomyopathy: A systematic review and meta-analysis","authors":"Jingdi Zhang , Honglin Xu, Zhan Li, Futai Feng, Siyu Wang, Yongzhe Li","doi":"10.1016/j.autrev.2025.103755","DOIUrl":"10.1016/j.autrev.2025.103755","url":null,"abstract":"<div><h3>Background</h3><div>Dilated cardiomyopathy (DCM) is a prevalent myocardial disorder characterized by impaired cardiac function affecting either the left ventricle or both ventricles. Accumulating evidence suggests that autoimmunity represents a key mechanism implicated in its pathogenesis, as several abundant autoantibodies have been identified in patients with the condition. However, the prevalence of these antibodies (Abs) in patients with DCM compared to that in both healthy controls (HCs) and those with ischemic cardiomyopathy (ICM), as well as their potential association with DCM, remains unclear. This study aimed to elucidate the prevalence of certain autoantibodies in patients with DCM compared to that in HCs and patients with ICM, as well as to evaluate their correlation with clinical characteristics and outcomes.</div></div><div><h3>Methods</h3><div>A comprehensive literature search of the PubMed, Web of Science, EMBASE, the Cochrane Library, and Scopus was conducted up to March 26, 2024, and any article that fulfilled our inclusion criteria was reviewed. A meta-analysis was then conducted, using both random- and fixed-effects models.</div></div><div><h3>Results</h3><div>A total of 38 studies met the inclusion criteria and were pulled for this analysis. Significantly higher prevalence rates of autoantibodies targeting the anti-β1 adrenergic receptor (β1-AR; odds ratio [OR] = 4.96, <em>p</em> = 0.000), M2 muscarinic receptor (M2-R; OR = 4.07, p = 0.000), adenine nucleotide translocator (ANT; OR = 21.18, <em>p</em> = 0.001) and myosin (OR = 12.26, <em>p</em> = 0.000) were observed in patients with DCM compared to HCs. Moreover, patients with DCM exhibited a significantly higher frequency of positive ANT Abs (OR = 34.52, <em>p</em> = 0.005) compared to those with ICM. Regarding clinical characteristics and outcomes, seropositivity for β1-AR Abs was found to be significantly correlated with New York Heart Association (NYHA) classification (standardized mean difference [SMD] = 0.78, <em>p</em> = 0.006), left ventricular ejection fraction (LVEF) (SMD = −1.38, <em>p</em> = 0.001), and heart rate (HR) (SMD = 1.505, <em>p</em> = 0.022). Seropositivity for anti‑calcium channel Abs was significantly associated with sudden cardiac death (SCD; OR = 3.17, <em>p</em> = 0.000) and all-cause mortality (OR = 2.06, <em>p</em> = 0.008), while anti-troponin I (TnI) Abs were associated with atrial fibrillation (OR = 0.21, <em>p</em> = 0.042). In terms of Ab prevalence rates, significant heterogeneity in the frequency of anti-β1-AR Abs between studies investigating DCM and ICM may be partially explained by the detection methods used and the mean ages of the patients. Meta-regression analysis suggested that the patients' ages may partially explain the observed heterogeneity between studies regarding β1-AR Ab seropositivity and HR. However, the heterogeneity observed in the studies comparing the prevalences of Abs in patients with DCM vs HCs and ICM, as","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103755"},"PeriodicalIF":9.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143036323","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":"CD4+CD8+ double-positive T cells in immune disorders and cancer: Prospects and hurdles in immunotherapy","authors":"Md Rakibul Alam ,&nbsp;Amos Olalekan Akinyemi ,&nbsp;Jianlin Wang ,&nbsp;Mithu Howlader ,&nbsp;Mohammad Esfini Farahani ,&nbsp;Maria Nur ,&nbsp;Min Zhang ,&nbsp;Lixiang Gu ,&nbsp;Zhiguo Li","doi":"10.1016/j.autrev.2025.103757","DOIUrl":"10.1016/j.autrev.2025.103757","url":null,"abstract":"<div><div>CD4⁺ and CD8⁺ T cells play critical roles in both innate and adaptive immune responses, managing and modulating cellular immunity during immune diseases and cancer. Their well-established functions have led to significant clinical benefits. CD4⁺CD8⁺ double-positive (DP) T cells, a subset of the T cell population, have been identified in the blood and peripheral lymphoid tissues across various species. They have gained interest due to their involvement in immune disorders, inflammation, and cancer. Although mature DP T cells are present in healthy individuals and contribute to disease contexts, their molecular characteristics and pathophysiological roles remain debated. Notably, the number of DP T cells in the blood is higher in older adults compared to younger individuals, and these cells can stimulate inflammation and viral infections through increased secretion of interleukin (IL)-10, interferon gamma (IFN-γ), and transforming growth factor beta (TGF-β). In cancer, DP T cells have been observed to infiltrate cutaneous T cell lymphomas and are found in greater numbers in nodular lymphocyte predominant Hodgkin lymphoma, melanoma, hepatocellular carcinoma, and breast cancer. The higher prevalence of DP T cells in advanced cancers, coupled with their strong lytic activity and distinct cytokine profile, suggests that these cells may play a crucial role in modulating immune responses to cancer. This insight offers a potential new approach for enhancing the identification and selection of antigen-reactive T cells in immune-based treatments. This review provides a comprehensive overview of the origin, distribution, transcriptional regulation during developmental stages, and functions of DP T cells. A deeper understanding of the diversity and roles of DP T cells may pave the way for their development as a promising tool for immunotherapy in the management of immune disorders and metastatic cancers.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 3","pages":"Article 103757"},"PeriodicalIF":9.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143036319","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":"Disease-modifying strategies: Targeting protein kinases in multiple sclerosis and other autoimmune disorders","authors":"Franz Felix Konen ,&nbsp;Nora Möhn ,&nbsp;Torsten Witte ,&nbsp;Matthias Schefzyk ,&nbsp;Miriam Wiestler ,&nbsp;Svjetlana Lovric ,&nbsp;Karsten Hufendiek ,&nbsp;Konstantin Fritz Jendretzky ,&nbsp;Stefan Gingele ,&nbsp;Philipp Schwenkenbecher ,&nbsp;Kurt-Wolfram Sühs ,&nbsp;Manuel A. Friese ,&nbsp;Luisa Klotz ,&nbsp;Refik Pul ,&nbsp;Marc Pawlitzki ,&nbsp;David Hagin ,&nbsp;Christoph Kleinschnitz ,&nbsp;Sven G. Meuth ,&nbsp;Thomas Skripuletz","doi":"10.1016/j.autrev.2025.103754","DOIUrl":"10.1016/j.autrev.2025.103754","url":null,"abstract":"<div><div>A wide variety of immunomodulatory therapies are already available for the treatment of multiple sclerosis (MS). Through fundamental insights from basic research with a gain of knowledge in the pathological processes underlying MS, the exploration of additional medical compounds within clinical trials has been ignited. Emerging novel medications with innovative mechanisms of action are being introduced. Those mechanisms of action include a broad therapeutic spectrum of substances targeting various protein kinases, some of which could also be used for the treatment of other autoimmune-mediated diseases. The advancement of new compounds could therefore enable a more personalized approach in treating MS, taking into consideration patients' co-existing autoimmune-mediated diseases. In this review, we discuss potential compounds targeting protein kinases, currently under investigation in clinical trials for various autoimmune diseases that could become viable treatment options for MS and comorbid autoimmune conditions in the future.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103754"},"PeriodicalIF":9.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143021923","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":"Advances in RNA therapy for the treatment of autoimmune diseases","authors":"Ying Zhang ,&nbsp;Chenyang Zang ,&nbsp;Manyun Mao ,&nbsp;Mi Zhang ,&nbsp;Zhenwei Tang ,&nbsp;Wangqing Chen ,&nbsp;Wu Zhu","doi":"10.1016/j.autrev.2025.103753","DOIUrl":"10.1016/j.autrev.2025.103753","url":null,"abstract":"<div><div>Autoimmune diseases (ADs) are a group of complex, chronic conditions characterized by disturbance of immune tolerance, with examples including systemic lupus erythematosus, rheumatoid arthritis, multiple sclerosis, and psoriasis. These diseases have unclear pathogenesis, and traditional therapeutic approaches remain limited. However, advances in high-throughput histology technology and scientific discoveries have led to the identification of various pathogenic factors contributing to ADs. Coupled with improvements in RNA nucleic acid-based drug synthesis, design, and delivery, RNA-based therapies have been extensively investigated for their potential in treating ADs. This paper reviews the progress in the use of miRNAs, lncRNAs, circRNAs, siRNAs, antisense oligonucleotides (ASOs), aptamers, mRNAs, and other RNA-based therapies in ADs, focusing on their therapeutic potential and application prospects, providing insights for future research and clinical treatment of autoimmune diseases.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103753"},"PeriodicalIF":9.2,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143021836","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":"Endometriosis and autoimmunity","authors":"Luz P. Blanco ,&nbsp;Noemi Salmeri ,&nbsp;Sarah M. Temkin ,&nbsp;Victoria K. Shanmugam ,&nbsp;Pamela Stratton","doi":"10.1016/j.autrev.2025.103752","DOIUrl":"10.1016/j.autrev.2025.103752","url":null,"abstract":"<div><div>Endometriosis is a female-specific chronic condition that affects 1 in 10 women and other individuals with a uterus worldwide with common symptoms that include pelvic pain and infertility. Reliable and effective non-invasive biomarkers for endometriosis do not exist, and therefore currently a diagnosis of endometriosis requires direct visualization of lesions at surgery. Similarly, few safe and effective management strategies exist for endometriosis, with hormonal interventions and surgery only providing temporary symptom control. The development of endometriosis involves the implantation and proliferation of ectopic endometrial cells which triggers local and systemic inflammation and fibrosis. While multiple genetic, environmental, and lifestyle factors appear to influence the natural history of endometriosis, chronic inflammation is a hallmark feature associated with development and progression of the disease. Data further shows that endometriosis commonly co-occurs with autoimmune diseases, adding evidence that immune dysfunction likely contributes to the pathogenesis of this disorder. Specific innate and adaptive immune system drivers of endometriosis remain to be identified and additional research is needed to elucidate the mechanistic underpinnings of this debilitating disease. In this narrative review, we discuss the shared biological mechanisms and plausible immune-related connections between endometriosis and autoimmunity.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103752"},"PeriodicalIF":9.2,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999152","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":"Maternal and fetal outcomes in Latin American SLE pregnancies: A systematic review and meta-analysis","authors":"Jairo Cajamarca-Baron ,&nbsp;Catalina Sanmiguel-Reyes ,&nbsp;Juan Esteban Bedoya-Loaiza ,&nbsp;Juan Pablo Castañeda-Gonzalez ,&nbsp;Gabriel E. Acelas-Gonzalez ,&nbsp;Saulo Molina-Giraldo ,&nbsp;Diana Guavita-Navarro ,&nbsp;Claudia Ibáñez ,&nbsp;Alejandro Escobar ,&nbsp;Adriana Rojas-Villarraga","doi":"10.1016/j.autrev.2025.103744","DOIUrl":"10.1016/j.autrev.2025.103744","url":null,"abstract":"<div><h3>Introduction</h3><div>Systemic lupus erythematosus (SLE) predominantly affects women, especially during their reproductive years, leading to increased risks during pregnancy. Latina women develop SLE at a younger age, which increases their susceptibility to pregnancy complications such as pre-eclampsia, preterm birth and fetal growth restriction.</div></div><div><h3>Objective</h3><div>The purpose of this study is to systematically review maternal and fetal outcomes in pregnant Latina women with SLE and to perform a meta-analysis to assess specific risks associated with the disease.</div></div><div><h3>Materials and methods</h3><div>A systematic review according to PRISMA guidelines was performed (PubMed and SciELO), including studies on SLE and pregnancy in Latin America through December 2022. Eligible studies included case reports, cohort studies and clinical trials in pregnant women with SLE. The meta-analysis focused on key outcomes, including pre-eclampsia and lupus nephritis, with relative risk (RR) calculations.</div></div><div><h3>Results</h3><div>Forty-four studies with 2190 pregnancies were included. High rates of pre-eclampsia (11–52 %), preterm delivery (18.6–70.8 %), and fetal loss were reported. A decades-long analysis of pregnancy outcomes in SLE in Latin America shows increased research and improved care, with fetal loss rates decreasing from 35 % (1980–1999) to lower intrauterine (28 %) and neonatal (10 %) death rates in 2020–2023. Meta-analysis showed that lupus nephritis almost doubled the risk of pre-eclampsia (RR = 1.89, 95 % CI:1.40–2.55) compared to women without nephritis.</div></div><div><h3>Conclusion</h3><div>Latina women with SLE are at increased risk for adverse pregnancy outcomes, particularly pre-eclampsia and preterm delivery. Lupus nephritis and disease activity are major risk factors, highlighting the need for tailored care and early intervention to improve maternal and fetal outcomes in this population.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103744"},"PeriodicalIF":9.2,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982520","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":"Diagnostic approach in giant cell arteritis","authors":"Chiara Marvisi ,&nbsp;Federica Macaluso ,&nbsp;Caterina Ricordi ,&nbsp;Alberto Cavazza ,&nbsp;Francesco Muratore ,&nbsp;Carlo Salvarani","doi":"10.1016/j.autrev.2025.103743","DOIUrl":"10.1016/j.autrev.2025.103743","url":null,"abstract":"<div><div>Giant cell arteritis (GCA), also known as temporal arteritis, is the most common form of vasculitis in the elderly. While initially described as involving the temporal arteries, GCA can also affect the aorta and its major branches.</div><div>Despite the increased use of imaging modalities and the availability of temporal artery biopsy, diagnosing GCA remains challenging.</div><div>GCA should be considered a spectrum, with diagnostic methodologies tailored to the prevalent symptoms. The sensitivity and specificity of different diagnostic approaches can vary depending on the clinical setting.</div><div>Timing in diagnosing GCA is crucial to prevent serious complications, such as blindness and cerebrovascular ischemic events. While the prompt initiation of glucocorticoids (GCs) has reduced the incidence of major ischemic events, an uncertain diagnosis may expose the patient to unnecessary harm, such as complications from overtreatment or organ damage due to inadequate control of vasculitis.</div><div>This narrative review will summarize the most widely available diagnostic techniques for GCA and outline our approach for cases where the diagnosis may be uncertain.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103743"},"PeriodicalIF":9.2,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142963655","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":"Systemic lupus erythematosus and male reproductive health: A systematic review and meta-analysis","authors":"Jie Zhu ,&nbsp;Qingmiao Zhu ,&nbsp;Xiaolong Li ,&nbsp;Tianshu Shen ,&nbsp;Xiaowei Shi ,&nbsp;Ting Zhao","doi":"10.1016/j.autrev.2025.103742","DOIUrl":"10.1016/j.autrev.2025.103742","url":null,"abstract":"<div><h3>Objective</h3><div>Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that can affect various organs. Male SLE patients often face reproductive health challenges, but research on male sexual and reproductive health in SLE remains limited. This systematic review and meta-analysis aimed to explore the effects of SLE and its related factors on male sexual function and reproductive health.</div></div><div><h3>Methods</h3><div>The PubMed, Cochrane library, Embase, Web of Science, Wanfang Data, and China National Knowledge Infrastructure (CNKI) databases were examined from January 2000 to December 2024. Data extraction and quality assessment were performed by two reviewers. Meta-analysis was carried out using Review Manager 5.3 software, and the risk of bias was assessed using the AHRQ checklist. The following outcomes were evaluated: sexual function, reproductive hormones and fertility.</div></div><div><h3>Results</h3><div>In the literature search, 5002 articles were identified, of which 9 studies met the inclusion criteria. Meta-analysis showed a significantly higher incidence of erectile dysfunction (ED) in SLE patients (OR = 7.44; 95 % CI = 5.00 to 11.06, <em>p</em> &lt; 0.001). SLE patients also had higher levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) compared to controls (FSH: MD = 4.02; 95 % CI = 1.47 to 6.57; <em>p</em> = 0.002; LH: MD = 2.21; 95 % CI = 1.10 to 3.32; <em>p</em> &lt; 0.001). Semen analysis showed a significant decrease in sperm count in SLE patients (MD = -0.54; 95 % CI = -0.86 to −0.22; <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Male SLE patients are more likely to have problems with sexual function, reproductive hormones and sperm quality. These findings emphasize the need for increased clinical awareness and interventions focused on male sexual and reproductive health in SLE patients.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103742"},"PeriodicalIF":9.2,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142943468","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":"Cerebral iron accumulation in multiple sclerosis: Pathophysiology and therapeutic implications","authors":"Geir Bjørklund ,&nbsp;David R. Wallace ,&nbsp;Tony Hangan ,&nbsp;Monica Butnariu ,&nbsp;Leonard Gurgas ,&nbsp;Massimiliano Peana","doi":"10.1016/j.autrev.2025.103741","DOIUrl":"10.1016/j.autrev.2025.103741","url":null,"abstract":"<div><div>Multiple sclerosis (MS) is a chronic autoimmune disorder of the central nervous system characterized by demyelination, neuroinflammation, and neurodegeneration. Recent studies highlight the role of cerebral iron (Fe) accumulation in exacerbating MS pathophysiology. Fe, essential for neural function, contributes to oxidative stress and inflammation when dysregulated, particularly in the brain's gray matter and demyelinated lesions. Advanced imaging techniques, including susceptibility-weighted and quantitative susceptibility mapping, have revealed abnormal Fe deposition patterns in MS patients, suggesting its involvement in disease progression. Iron's interaction with immune cells, such as microglia, releases pro-inflammatory cytokines, further amplifying neuroinflammation and neuronal damage. These findings implicate Fe dysregulation as a significant factor in MS progression, contributing to clinical manifestations like cognitive impairment. Therapeutic strategies targeting Fe metabolism, including Fe chelation therapies, show promise in reducing Fe-related damage, instilling optimism about the future of MS treatment. However, challenges such as crossing the blood-brain barrier and maintaining Fe homeostasis remain. Emerging approaches, such as Fe-targeted nanotherapeutics and biologics, offer new possibilities for personalized treatments. However, the journey is far from over. Continued research into the molecular mechanisms of Fe-induced neuroinflammation and oxidative damage is essential. Through this research, we can develop effective interventions that could slow MS progression and improve patient outcomes.</div></div>","PeriodicalId":8664,"journal":{"name":"Autoimmunity reviews","volume":"24 4","pages":"Article 103741"},"PeriodicalIF":9.2,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142930518","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":"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}