{"title":"单基因狼疮：洞察疾病发病机制和治疗机会。","authors":"Yuting Qin, Jianyang Ma, Carola G Vinuesa","doi":"10.1097/BOR.0000000000001008","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose of review: </strong>This review aims to provide an overview of the genes and molecular pathways involved in monogenic lupus, the implications for genome diagnosis, and the potential therapies targeting these molecular mechanisms.</p><p><strong>Recent findings: </strong>To date, more than 30 genes have been identified as contributors to monogenic lupus. These genes are primarily related to complement deficiency, activation of the type I interferon (IFN) pathway, disruption of B-cell and T-cell tolerance and metabolic pathways, which reveal the multifaceted nature of systemic lupus erythematosus (SLE) pathogenesis.</p><p><strong>Summary: </strong>In-depth study of the causes of monogenic lupus can provide valuable insights into of pathogenic mechanisms of SLE, facilitate the identification of effective biomarkers, and aid in developing therapeutic strategies.</p>","PeriodicalId":11145,"journal":{"name":"Current opinion in rheumatology","volume":null,"pages":null},"PeriodicalIF":5.2000,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7616038/pdf/","citationCount":"0","resultStr":"{\"title\":\"Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities.\",\"authors\":\"Yuting Qin, Jianyang Ma, Carola G Vinuesa\",\"doi\":\"10.1097/BOR.0000000000001008\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose of review: </strong>This review aims to provide an overview of the genes and molecular pathways involved in monogenic lupus, the implications for genome diagnosis, and the potential therapies targeting these molecular mechanisms.</p><p><strong>Recent findings: </strong>To date, more than 30 genes have been identified as contributors to monogenic lupus. These genes are primarily related to complement deficiency, activation of the type I interferon (IFN) pathway, disruption of B-cell and T-cell tolerance and metabolic pathways, which reveal the multifaceted nature of systemic lupus erythematosus (SLE) pathogenesis.</p><p><strong>Summary: </strong>In-depth study of the causes of monogenic lupus can provide valuable insights into of pathogenic mechanisms of SLE, facilitate the identification of effective biomarkers, and aid in developing therapeutic strategies.</p>\",\"PeriodicalId\":11145,\"journal\":{\"name\":\"Current opinion in rheumatology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":5.2000,\"publicationDate\":\"2024-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7616038/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Current opinion in rheumatology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1097/BOR.0000000000001008\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/2/29 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"RHEUMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Current opinion in rheumatology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/BOR.0000000000001008","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/2/29 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"RHEUMATOLOGY","Score":null,"Total":0}
Monogenic lupus: insights into disease pathogenesis and therapeutic opportunities.
Purpose of review: This review aims to provide an overview of the genes and molecular pathways involved in monogenic lupus, the implications for genome diagnosis, and the potential therapies targeting these molecular mechanisms.
Recent findings: To date, more than 30 genes have been identified as contributors to monogenic lupus. These genes are primarily related to complement deficiency, activation of the type I interferon (IFN) pathway, disruption of B-cell and T-cell tolerance and metabolic pathways, which reveal the multifaceted nature of systemic lupus erythematosus (SLE) pathogenesis.
Summary: In-depth study of the causes of monogenic lupus can provide valuable insights into of pathogenic mechanisms of SLE, facilitate the identification of effective biomarkers, and aid in developing therapeutic strategies.
期刊介绍：
A high impact review journal which boasts an international readership, Current Opinion in Rheumatology offers a broad-based perspective on the most recent and exciting developments within the field of rheumatology. Published bimonthly, each issue features insightful editorials and high quality invited reviews covering two or three key disciplines which include vasculitis syndromes, medical physiology and rheumatic diseases, crystal deposition diseases and rheumatoid arthritis. Each discipline introduces world renowned guest editors to ensure the journal is at the forefront of knowledge development and delivers balanced, expert assessments of advances from the previous year.
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