Jiahui Zhang, Pui Y Lee, Ivona Aksentijevich, Qing Zhou
{"title":"How to Build a Fire: The Genetics of Autoinflammatory Diseases.","authors":"Jiahui Zhang, Pui Y Lee, Ivona Aksentijevich, Qing Zhou","doi":"10.1146/annurev-genet-030123-084224","DOIUrl":null,"url":null,"abstract":"<p><p>Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders caused by excess activation of the innate immune system in an antigen-independent manner. Starting with the discovery of the causal gene for familial Mediterranean fever, more than 50 monogenic SAIDs have been described. These discoveries, paired with advances in immunology and genomics, have allowed our understanding of these diseases to improve drastically in the last decade. The genetic causes of SAIDs are complex and include both germline and somatic pathogenic variants that affect various inflammatory signaling pathways. We provide an overview of the acquired SAIDs from a genetic perspective and summarize the clinical phenotypes and mechanism(s) of inflammation, aiming to provide a comprehensive understanding of the pathogenesis of autoinflammatory diseases.</p>","PeriodicalId":8035,"journal":{"name":"Annual review of genetics","volume":" ","pages":"245-274"},"PeriodicalIF":8.7000,"publicationDate":"2023-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annual review of genetics","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.1146/annurev-genet-030123-084224","RegionNum":1,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/10 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders caused by excess activation of the innate immune system in an antigen-independent manner. Starting with the discovery of the causal gene for familial Mediterranean fever, more than 50 monogenic SAIDs have been described. These discoveries, paired with advances in immunology and genomics, have allowed our understanding of these diseases to improve drastically in the last decade. The genetic causes of SAIDs are complex and include both germline and somatic pathogenic variants that affect various inflammatory signaling pathways. We provide an overview of the acquired SAIDs from a genetic perspective and summarize the clinical phenotypes and mechanism(s) of inflammation, aiming to provide a comprehensive understanding of the pathogenesis of autoinflammatory diseases.
期刊介绍：
The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.
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