Pub Date : 2024-09-05DOI: 10.1038/s41584-024-01166-w
Jessica McHugh
Researchers have identified a mechanistic link between SARS-CoV-2 infection and multisystem inflammatory syndrome in children, providing evidence for the involvement of molecular mimicry.
{"title":"Molecular mimicry links SARS-CoV-2 infection and MIS-C","authors":"Jessica McHugh","doi":"10.1038/s41584-024-01166-w","DOIUrl":"10.1038/s41584-024-01166-w","url":null,"abstract":"Researchers have identified a mechanistic link between SARS-CoV-2 infection and multisystem inflammatory syndrome in children, providing evidence for the involvement of molecular mimicry.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"598-598"},"PeriodicalIF":29.4,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142140569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-04DOI: 10.1038/s41584-024-01152-2
Yogita Ghodke-Puranik, Mikhail Olferiev, Mary K. Crow
Systemic lupus erythematosus (SLE) is a prime example of how the interplay between genetic and environmental factors can trigger systemic autoimmunity, particularly in young women. Although clinical disease can take years to manifest, risk is established by the unique genetic makeup of an individual. Genome-wide association studies have identified almost 200 SLE-associated risk loci, yet unravelling the functional effect of these loci remains a challenge. New analytic tools have enabled researchers to delve deeper, leveraging DNA sequencing and cell-specific and immune pathway analysis to elucidate the immunopathogenic mechanisms. Both common genetic variants and rare non-synonymous mutations can interact to increase SLE risk. Notably, variants strongly associated with SLE are often located in genome super-enhancers that regulate MHC class II gene expression. Additionally, the 3D conformations of DNA and RNA contribute to genome regulation and innate immune system activation. Improved therapies for SLE are urgently needed and current and future knowledge from genetic and genomic research should provide new tools to facilitate patient diagnosis, enhance the identification of therapeutic targets and optimize testing of agents. This Review explores the genetic basis of systemic lupus erythematosus, including the role of enhancers in the MHC region, the 3D structure of DNA and various pathway-specific mechanisms. These findings enhance disease understanding and inform improved diagnosis and treatment strategies.
{"title":"Systemic lupus erythematosus genetics: insights into pathogenesis and implications for therapy","authors":"Yogita Ghodke-Puranik, Mikhail Olferiev, Mary K. Crow","doi":"10.1038/s41584-024-01152-2","DOIUrl":"10.1038/s41584-024-01152-2","url":null,"abstract":"Systemic lupus erythematosus (SLE) is a prime example of how the interplay between genetic and environmental factors can trigger systemic autoimmunity, particularly in young women. Although clinical disease can take years to manifest, risk is established by the unique genetic makeup of an individual. Genome-wide association studies have identified almost 200 SLE-associated risk loci, yet unravelling the functional effect of these loci remains a challenge. New analytic tools have enabled researchers to delve deeper, leveraging DNA sequencing and cell-specific and immune pathway analysis to elucidate the immunopathogenic mechanisms. Both common genetic variants and rare non-synonymous mutations can interact to increase SLE risk. Notably, variants strongly associated with SLE are often located in genome super-enhancers that regulate MHC class II gene expression. Additionally, the 3D conformations of DNA and RNA contribute to genome regulation and innate immune system activation. Improved therapies for SLE are urgently needed and current and future knowledge from genetic and genomic research should provide new tools to facilitate patient diagnosis, enhance the identification of therapeutic targets and optimize testing of agents. This Review explores the genetic basis of systemic lupus erythematosus, including the role of enhancers in the MHC region, the 3D structure of DNA and various pathway-specific mechanisms. These findings enhance disease understanding and inform improved diagnosis and treatment strategies.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"635-648"},"PeriodicalIF":29.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142130741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-04DOI: 10.1038/s41584-024-01165-x
Holly Webster
New findings reveal a potential mechanism by which Helicobacter pylori exacerbates rheumatoid arthritis
新发现揭示了幽门螺杆菌加剧类风湿性关节炎的潜在机制
{"title":"Helicobacter pylori-induced citrullination linked to RA exacerbation","authors":"Holly Webster","doi":"10.1038/s41584-024-01165-x","DOIUrl":"10.1038/s41584-024-01165-x","url":null,"abstract":"New findings reveal a potential mechanism by which Helicobacter pylori exacerbates rheumatoid arthritis","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"598-598"},"PeriodicalIF":29.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142130732","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-04DOI: 10.1038/s41584-024-01160-2
Fabrizio Luppi, Marco Sebastiani
The first guidelines for the screening, monitoring and treatment of interstitial lung disease (ILD) in patients with systemic autoimmune rheumatic diseases (SARDs) are now available after a major multidisciplinary effort by the ACR and the American College of Chest Physicians. These guidelines demonstrate that multidisciplinary collaborations can improve SARD-ILD management.
经过美国风湿病协会（ACR）和美国胸科医师学会（American College of Chest Physicians）多学科的共同努力，第一份关于系统性自身免疫性风湿病（SARDs）患者间质性肺病（ILD）的筛查、监测和治疗指南现已面世。这些指南表明，多学科合作可以改善 SARD-ILD 的管理。
{"title":"Guiding ILD management in systemic autoimmune rheumatic diseases","authors":"Fabrizio Luppi, Marco Sebastiani","doi":"10.1038/s41584-024-01160-2","DOIUrl":"10.1038/s41584-024-01160-2","url":null,"abstract":"The first guidelines for the screening, monitoring and treatment of interstitial lung disease (ILD) in patients with systemic autoimmune rheumatic diseases (SARDs) are now available after a major multidisciplinary effort by the ACR and the American College of Chest Physicians. These guidelines demonstrate that multidisciplinary collaborations can improve SARD-ILD management.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 11","pages":"669-670"},"PeriodicalIF":29.4,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142130733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02DOI: 10.1038/s41584-024-01159-9
R. Hal Scofield, Valerie M. Lewis
Autoimmune diseases such as systemic lupus erythematosus preferentially affect women, and multiple hypotheses are under investigation to elucidate this phenomenon. Emerging research suggests that multiple pathophysiological mechanisms and pathways are likely involved, including several that involve the X chromosome, but is skewing of X chromosome inactivation one of them?
系统性红斑狼疮等自身免疫性疾病主要影响女性，目前正在研究多种假说，以阐明这一现象。新的研究表明，可能涉及多种病理生理机制和途径，其中包括几种涉及 X 染色体的机制和途径，但 X 染色体失活偏斜是否是其中之一呢？
{"title":"Is X chromosome inactivation a cause or effect of SLE?","authors":"R. Hal Scofield, Valerie M. Lewis","doi":"10.1038/s41584-024-01159-9","DOIUrl":"10.1038/s41584-024-01159-9","url":null,"abstract":"Autoimmune diseases such as systemic lupus erythematosus preferentially affect women, and multiple hypotheses are under investigation to elucidate this phenomenon. Emerging research suggests that multiple pathophysiological mechanisms and pathways are likely involved, including several that involve the X chromosome, but is skewing of X chromosome inactivation one of them?","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"599-600"},"PeriodicalIF":29.4,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142120232","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02DOI: 10.1038/s41584-024-01162-0
Satoshi Kubo, Yoshiya Tanaka
Immune health has been considered impossible to assess through the use of traditional biomarkers. The newly devised immune health metric (IHM) integrates diverse biological data to quantify immune function, offering a comprehensive indicator for the evaluation of immune health. The potential of the IHM to distinguish healthy individuals from patients with monogenic or polygenic immune-mediated diseases might lead to revolutionary changes in treatment strategies for rheumatic diseases.
{"title":"The immune health metric as an indicator of health and disease","authors":"Satoshi Kubo, Yoshiya Tanaka","doi":"10.1038/s41584-024-01162-0","DOIUrl":"10.1038/s41584-024-01162-0","url":null,"abstract":"Immune health has been considered impossible to assess through the use of traditional biomarkers. The newly devised immune health metric (IHM) integrates diverse biological data to quantify immune function, offering a comprehensive indicator for the evaluation of immune health. The potential of the IHM to distinguish healthy individuals from patients with monogenic or polygenic immune-mediated diseases might lead to revolutionary changes in treatment strategies for rheumatic diseases.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 12","pages":"743-744"},"PeriodicalIF":29.4,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142130730","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-09-02DOI: 10.1038/s41584-024-01149-x
Maya H. Buch, Ziad Mallat, Marc R. Dweck, Jason M. Tarkin, Declan P. O’Regan, Vanessa Ferreira, Taryn Youngstein, Sven Plein
Immune-mediated inflammatory diseases (IMIDs) are a spectrum of disorders of overlapping immunopathogenesis, with a prevalence of up to 10% in Western populations and increasing incidence in developing countries. Although targeted treatments have revolutionized the management of rheumatic IMIDs, cardiovascular involvement confers an increased risk of mortality and remains clinically under-recognized. Cardiovascular pathology is diverse across rheumatic IMIDs, ranging from premature atherosclerotic cardiovascular disease (ASCVD) to inflammatory cardiomyopathy, which comprises myocardial microvascular dysfunction, vasculitis, myocarditis and pericarditis, and heart failure. Epidemiological and clinical data imply that rheumatic IMIDs and associated cardiovascular disease share common inflammatory mechanisms. This concept is strengthened by emergent trials that indicate improved cardiovascular outcomes with immune modulators in the general population with ASCVD. However, not all disease-modifying therapies that reduce inflammation in IMIDs such as rheumatoid arthritis demonstrate equally beneficial cardiovascular effects, and the evidence base for treatment of inflammatory cardiomyopathy in patients with rheumatic IMIDs is lacking. Specific diagnostic protocols for the early detection and monitoring of cardiovascular involvement in patients with IMIDs are emerging but are in need of ongoing development. This Review summarizes current concepts on the potentially targetable inflammatory mechanisms of cardiovascular pathology in rheumatic IMIDs and discusses how these concepts can be considered for the diagnosis and management of cardiovascular involvement across rheumatic IMIDs, with an emphasis on the potential of cardiovascular imaging for risk stratification, early detection and prognostication. Cardiovascular involvement is one of the many manifestations of rheumatic immune-mediated inflammatory diseases (IMIDs) that increase mortality. The pathogenesis of atherosclerosis and inflammatory cardiomyopathies involves inflammatory pathways common with those operating and targeted in rheumatic IMIDs. Here, Maya Buch and colleagues discuss implications of these shared pathways for the prevention, detection and management of cardiovascular involvement in patients with rheumatic IMIDs, while highlighting complexities and open questions.
{"title":"Current understanding and management of cardiovascular involvement in rheumatic immune-mediated inflammatory diseases","authors":"Maya H. Buch, Ziad Mallat, Marc R. Dweck, Jason M. Tarkin, Declan P. O’Regan, Vanessa Ferreira, Taryn Youngstein, Sven Plein","doi":"10.1038/s41584-024-01149-x","DOIUrl":"10.1038/s41584-024-01149-x","url":null,"abstract":"Immune-mediated inflammatory diseases (IMIDs) are a spectrum of disorders of overlapping immunopathogenesis, with a prevalence of up to 10% in Western populations and increasing incidence in developing countries. Although targeted treatments have revolutionized the management of rheumatic IMIDs, cardiovascular involvement confers an increased risk of mortality and remains clinically under-recognized. Cardiovascular pathology is diverse across rheumatic IMIDs, ranging from premature atherosclerotic cardiovascular disease (ASCVD) to inflammatory cardiomyopathy, which comprises myocardial microvascular dysfunction, vasculitis, myocarditis and pericarditis, and heart failure. Epidemiological and clinical data imply that rheumatic IMIDs and associated cardiovascular disease share common inflammatory mechanisms. This concept is strengthened by emergent trials that indicate improved cardiovascular outcomes with immune modulators in the general population with ASCVD. However, not all disease-modifying therapies that reduce inflammation in IMIDs such as rheumatoid arthritis demonstrate equally beneficial cardiovascular effects, and the evidence base for treatment of inflammatory cardiomyopathy in patients with rheumatic IMIDs is lacking. Specific diagnostic protocols for the early detection and monitoring of cardiovascular involvement in patients with IMIDs are emerging but are in need of ongoing development. This Review summarizes current concepts on the potentially targetable inflammatory mechanisms of cardiovascular pathology in rheumatic IMIDs and discusses how these concepts can be considered for the diagnosis and management of cardiovascular involvement across rheumatic IMIDs, with an emphasis on the potential of cardiovascular imaging for risk stratification, early detection and prognostication. Cardiovascular involvement is one of the many manifestations of rheumatic immune-mediated inflammatory diseases (IMIDs) that increase mortality. The pathogenesis of atherosclerosis and inflammatory cardiomyopathies involves inflammatory pathways common with those operating and targeted in rheumatic IMIDs. Here, Maya Buch and colleagues discuss implications of these shared pathways for the prevention, detection and management of cardiovascular involvement in patients with rheumatic IMIDs, while highlighting complexities and open questions.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"614-634"},"PeriodicalIF":29.4,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142130734","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-23DOI: 10.1038/s41584-024-01161-1
Holly Webster
In a new study, researchers use M2 macrophage exosomes and membranes to disguise a tri-drug-carrying nanosystem that reduces inflammation and urate levels in rats with gouty arthritis.
{"title":"Macrophage-coated nanocarriers for gouty arthritis","authors":"Holly Webster","doi":"10.1038/s41584-024-01161-1","DOIUrl":"10.1038/s41584-024-01161-1","url":null,"abstract":"In a new study, researchers use M2 macrophage exosomes and membranes to disguise a tri-drug-carrying nanosystem that reduces inflammation and urate levels in rats with gouty arthritis.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"597-597"},"PeriodicalIF":29.4,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142042461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-22DOI: 10.1038/s41584-024-01156-y
Roberto Díaz-Peña, Olufemi Adelowo
Increasing diversity in genomic studies is essential to advance precision medicine and health equity in rheumatic diseases. Addressing structural and logistical barriers to include underrepresented populations, particularly in Africa and Latin America, could improve our understanding of rheumatic diseases and lead to better healthcare outcomes for all.
{"title":"Advancing equity in genomic medicine for rheumatology","authors":"Roberto Díaz-Peña, Olufemi Adelowo","doi":"10.1038/s41584-024-01156-y","DOIUrl":"10.1038/s41584-024-01156-y","url":null,"abstract":"Increasing diversity in genomic studies is essential to advance precision medicine and health equity in rheumatic diseases. Addressing structural and logistical barriers to include underrepresented populations, particularly in Africa and Latin America, could improve our understanding of rheumatic diseases and lead to better healthcare outcomes for all.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"595-596"},"PeriodicalIF":29.4,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142036419","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-08-20DOI: 10.1038/s41584-024-01157-x
Maria Papatriantafyllou
The PDZ domain-containing scaffold protein PDZK1 is downregulated in osteoarthritic chondrocytes and is linked to mitochondrial dysfunction and chondrocyte senescence.
{"title":"PDZK1 downregulation linked to mitochondrial dysfunction in OA","authors":"Maria Papatriantafyllou","doi":"10.1038/s41584-024-01157-x","DOIUrl":"10.1038/s41584-024-01157-x","url":null,"abstract":"The PDZ domain-containing scaffold protein PDZK1 is downregulated in osteoarthritic chondrocytes and is linked to mitochondrial dysfunction and chondrocyte senescence.","PeriodicalId":18810,"journal":{"name":"Nature Reviews Rheumatology","volume":"20 10","pages":"597-597"},"PeriodicalIF":29.4,"publicationDate":"2024-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142009049","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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