{"title":"CARD9 in the pathogenesis of axial spondyloarthritis","authors":"","doi":"10.1016/j.berh.2024.101964","DOIUrl":null,"url":null,"abstract":"<div><p>Axial spondyloarthritis<span><span><span> (axSpA) has been long classified as an autoimmune disease caused by a breakdown in the ability of the immune system to delineate self from foreign, resulting in self-reactive </span>T cells. The strong </span>genetic<span><span> association of HLA-B27 supports this role for T cells<span>. More recently, genetic and clinical studies indicate a prominent role of the environment in triggering axSpA, including an important role for microbes and the innate immune response. As an example, mutations in genes associated with innate immunity, including the anti-fungal signaling molecule </span></span>Caspase recruitment domain-containing protein 9 (CARD9), have been linked to axSpA susceptibility. Thus, current thought classifies axSpA as a “mixed pattern condition” caused by both autoimmune and autoinflammatory mechanisms.</span></span></p><p>The goal of this review is to convey:</p><ul><li><span>•</span><span><p>Genetic/environmental mediating factors in axSpA</p></span></li><li><span>•</span><span><p>Known roles for CARD9 in anti-fungal immunity versus sterile inflammation</p></span></li><li><span>•</span><span><p>Previously characterized neutrophil-intrinsic roles for CARD9</p></span></li><li><span>•</span><span><p>Studies supporting a role for CARD9<sup>S12N</sup> mutation in promoting axSpA</p></span></li></ul></div>","PeriodicalId":50983,"journal":{"name":"Best Practice & Research in Clinical Rheumatology","volume":"38 2","pages":"Article 101964"},"PeriodicalIF":4.5000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Best Practice & Research in Clinical Rheumatology","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1521694224000354","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Axial spondyloarthritis (axSpA) has been long classified as an autoimmune disease caused by a breakdown in the ability of the immune system to delineate self from foreign, resulting in self-reactive T cells. The strong genetic association of HLA-B27 supports this role for T cells. More recently, genetic and clinical studies indicate a prominent role of the environment in triggering axSpA, including an important role for microbes and the innate immune response. As an example, mutations in genes associated with innate immunity, including the anti-fungal signaling molecule Caspase recruitment domain-containing protein 9 (CARD9), have been linked to axSpA susceptibility. Thus, current thought classifies axSpA as a “mixed pattern condition” caused by both autoimmune and autoinflammatory mechanisms.
The goal of this review is to convey:
•
Genetic/environmental mediating factors in axSpA
•
Known roles for CARD9 in anti-fungal immunity versus sterile inflammation
•
Previously characterized neutrophil-intrinsic roles for CARD9
•
Studies supporting a role for CARD9S12N mutation in promoting axSpA
期刊介绍:
Evidence-based updates of best clinical practice across the spectrum of musculoskeletal conditions.
Best Practice & Research: Clinical Rheumatology keeps the clinician or trainee informed of the latest developments and current recommended practice in the rapidly advancing fields of musculoskeletal conditions and science.
The series provides a continuous update of current clinical practice. It is a topical serial publication that covers the spectrum of musculoskeletal conditions in a 4-year cycle. Each topic-based issue contains around 200 pages of practical, evidence-based review articles, which integrate the results from the latest original research with current clinical practice and thinking to provide a continuous update.
Each issue follows a problem-orientated approach that focuses on the key questions to be addressed, clearly defining what is known and not known. The review articles seek to address the clinical issues of diagnosis, treatment and patient management. Management is described in practical terms so that it can be applied to the individual patient. The serial is aimed at the physician in both practice and training.