Désirée van der Heijde, Victoria Navarro-Compán, Robert Landewé, Joachim Sieper, Floris van Gaalen, Lianne S Gensler, Pedro M Machado, Helena Marzo-Ortega, Denis Poddubnyy, Mikhail Protopopov, Sofia Ramiro, Alexandre Sepriano, Xenofon Baraliakos
{"title":"1995-2025: thirty years of ASAS and its contribution to the understanding of spondyloarthritis.","authors":"Désirée van der Heijde, Victoria Navarro-Compán, Robert Landewé, Joachim Sieper, Floris van Gaalen, Lianne S Gensler, Pedro M Machado, Helena Marzo-Ortega, Denis Poddubnyy, Mikhail Protopopov, Sofia Ramiro, Alexandre Sepriano, Xenofon Baraliakos","doi":"10.1016/j.ard.2025.01.003","DOIUrl":"10.1016/j.ard.2025.01.003","url":null,"abstract":"<p><strong>Objective: </strong>To describe the role of the Assessment of SpondyloArthritis interntational Society (ASAS) over the past 30 years in the understanding of the field of spondyloarthritis.</p><p><strong>Methods: </strong>A narrative review of the achievements.</p><p><strong>Results: </strong>A summary of the role of ASAS in defining nomenclature, definition of and criteria for SpA, outcome assessments, recommendations, and education.</p><p><strong>Conclusion: </strong>ASAS played an important role in shaping the field of SpA.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"382-387"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412982","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":"Correspondence on 'Real-life use of the PEXIVAS reduced-dose glucocorticoid regimen in granulomatosis with polyangiitis and microscopic polyangiitis' by Nagle et al.","authors":"Yusuf Yazici","doi":"10.1016/j.ard.2025.01.040","DOIUrl":"10.1016/j.ard.2025.01.040","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"e16-e17"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143412998","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":"Response to: Nociplastic pain in rheumatology.","authors":"Daniel Clauw","doi":"10.1016/j.ard.2025.01.030","DOIUrl":"https://doi.org/10.1016/j.ard.2025.01.030","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":"84 3","pages":"e9"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536457","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":"Correspondence on 'Unveiling inflammatory and prehypertrophic cell populations as key contributors to knee cartilage degeneration in osteoarthritis using multi-omics data integration' by Fan et al.","authors":"Kohei Nishitani, Yu Kobori, Hiroyuki Yoshitomi, Akinori Murakami, Koichi Murata, Takayuki Fujii, Yugo 侑吾 Morita, Takashi Sono, Shuichi Matsuda","doi":"10.1016/j.ard.2024.11.001","DOIUrl":"10.1016/j.ard.2024.11.001","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"e10-e11"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363343","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":"Response to: Correspondence on 'Unveiling inflammatory and prehypertrophic cell populations as key contributors to knee cartilage degeneration in osteoarthritis using multi-omics data integration' by Fan et al.","authors":"Yue Fan, Xuzhao Bian, Di Zhang, Shiquan Sun","doi":"10.1016/j.ard.2024.11.002","DOIUrl":"10.1016/j.ard.2024.11.002","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"e12-e15"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405511","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":"Nociplastic pain in rheumatology.","authors":"Robert Landewé","doi":"10.1016/j.ard.2025.01.029","DOIUrl":"https://doi.org/10.1016/j.ard.2025.01.029","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":"84 3","pages":"e8"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536453","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}
Nils Schulz, Pascal van Wijnen, Ulf Müller-Ladner, Philipp Klemm
{"title":"Atypical calcification in a patient with connective tissue disease.","authors":"Nils Schulz, Pascal van Wijnen, Ulf Müller-Ladner, Philipp Klemm","doi":"10.1016/j.ard.2024.12.004","DOIUrl":"10.1016/j.ard.2024.12.004","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"516-517"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078492","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}
Yi Zeng, Panfeng Tao, Jun Wang, Ting Li, Yue Du, Xiuli Wang, Wei Wang, Siming Peng, Wei Wang, Mingsheng Ma, Hongmei Song, Xiaomin Yu, Qing Zhou
{"title":"Somatic gain-of-function mutation in TLR7 causes early-onset systemic lupus erythematosus.","authors":"Yi Zeng, Panfeng Tao, Jun Wang, Ting Li, Yue Du, Xiuli Wang, Wei Wang, Siming Peng, Wei Wang, Mingsheng Ma, Hongmei Song, Xiaomin Yu, Qing Zhou","doi":"10.1016/j.ard.2025.01.011","DOIUrl":"10.1016/j.ard.2025.01.011","url":null,"abstract":"<p><strong>Objectives: </strong>We identified a case of early-onset systemic lupus erythematosus (SLE) characterised by acute immune thrombocytopenia, recurrent fever, pneumonia, myocardial damage, thyroid dysfunction, lymphadenopathy, hepatosplenomegaly, and intracranial calcification. Our objective was to investigate the genetic and molecular mechanisms underlying the disease.</p><p><strong>Methods: </strong>Whole exome sequencing and targeted sequencing were performed and a somatic mutation in TLR7 was identified. RNA sequencing, quantitative polymerase chain reaction (qPCR), intracellular cytokine staining, and phospho-flow cytometry were performed to characterise inflammatory signatures. In addition, nuclear factor κB dual-luciferase reporter assays, qPCR, and RNA pull-down assays were performed to assess the functional impact of the TLR7 mutation on immune signalling.</p><p><strong>Results: </strong>We identified a novel somatic TLR7 mutation (p.Phe506Ser) that is likely to arise during early embryonic development. This mutation led to transcriptional upregulation of proinflammatory cytokines and interferon-stimulated genes, such as TNF and IFI27, with significant increases in intracellular cytokine expression, including TNF, following stimulation with the ligand single-stranded RNA (ssRNA) and the agonist R848 in the patient's peripheral blood mononuclear cells (PBMCs). In addition, functional analysis in HEK293T cells demonstrated that the mutant TLR7 exhibited increased binding affinity for ssRNA and enhanced responsiveness to agonists, resulting in hyperactivation of TLR7-mediated signalling.</p><p><strong>Conclusions: </strong>We report the first case of early-onset SLE caused by a somatic TLR7 gain-of-function mutation. Our findings demonstrate that the TLR7 F506S mutation drives excessive proinflammatory signalling in the patient's PBMCs, contributing to disease pathogenesis.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"442-450"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370312","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}
Ioanna Minopoulou, Artur Wilhelm, Fredrik Albach, Arnd Kleyer, Edgar Wiebe, Simon Schallenberg, Anja Fleischmann, Mareike Frick, Frederik Damm, Julia Gogolok, Sebastian Serve, Benjamin Nick Locher, Dominic Borie, Vincent Casteleyn, Robert Biesen, Thomas Dörner, Tobias Alexander, Jan Zernicke, Kamran Movassaghi, Marie Luise Hütter-Krönke, Eva Schrezenmeier, Adrian Schreiber, Udo Schneider, Lars Bullinger, Gerhard Krönke, Olaf Penack, David Simon
{"title":"Anti-CD19 CAR T cell therapy induces antibody seroconversion and complete B cell depletion in the bone marrow of a therapy-refractory patient with ANCA-associated vasculitis.","authors":"Ioanna Minopoulou, Artur Wilhelm, Fredrik Albach, Arnd Kleyer, Edgar Wiebe, Simon Schallenberg, Anja Fleischmann, Mareike Frick, Frederik Damm, Julia Gogolok, Sebastian Serve, Benjamin Nick Locher, Dominic Borie, Vincent Casteleyn, Robert Biesen, Thomas Dörner, Tobias Alexander, Jan Zernicke, Kamran Movassaghi, Marie Luise Hütter-Krönke, Eva Schrezenmeier, Adrian Schreiber, Udo Schneider, Lars Bullinger, Gerhard Krönke, Olaf Penack, David Simon","doi":"10.1016/j.ard.2025.01.008","DOIUrl":"10.1016/j.ard.2025.01.008","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"e4-e7"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073550","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}
Lianne Kearsley-Fleet, Samantha L Smith, Athimalaipet V Ramanan, Kimme L Hyrich
{"title":"Annals of the Rheumatic Diseases Collection on juvenile idiopathic arthritis (JIA) 2019-2024.","authors":"Lianne Kearsley-Fleet, Samantha L Smith, Athimalaipet V Ramanan, Kimme L Hyrich","doi":"10.1016/j.ard.2024.11.004","DOIUrl":"10.1016/j.ard.2024.11.004","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"375-381"},"PeriodicalIF":20.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143405507","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}