How to Build a Fire: The Genetics of Autoinflammatory Diseases

被引:7
|
作者
Zhang, Jiahui [1 ]
Lee, Pui Y. [2 ]
Aksentijevich, Ivona [1 ,3 ]
Zhou, Qing [1 ,4 ]
机构
[1] Zhejiang Univ, Inst Life Sci, Hangzhou, Peoples R China
[2] Harvard Med Sch, Boston Childrens Hosp, Div Immunol, Boston, MA 02115 USA
[3] Natl Human Genome Res Inst, Natl Inst Hlth, Inflammat Dis Sect, Bethesda, MD 20892 USA
[4] Zhejiang Univ Med Ctr, Liangzhu Lab, Hangzhou, Peoples R China
基金
中国国家自然科学基金;
关键词
systemic autoinflammatory diseases (SAIDs); genetics; monogenic; digenic; polygenic; epigenetics; somatic; AICARDI-GOUTIERES-SYNDROME; BEHCETS-DISEASE; PERIODIC FEVER; INFLAMMATORY SYNDROME; IMMUNE DYSREGULATION; DEVELOPMENTAL DELAY; PROTEASOME SUBUNIT; SOMATIC MOSAICISM; ONSET PULMONARY; I INTERFERON;
D O I
10.1146/annurev-genet-030123-084224
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:245 / 274
页数:30
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