%0 Journal Article
%T 幼年关节炎的单基因背景<br>Monogenic Background of Juvenile Arthritis
%A 刘芋巧
%A 安云飞
%J Advances in Clinical Medicine
%P 2398-2405
%@ 2161-8720
%D 2024
%I Hans Publishing
%R 10.12677/acm.2024.1441307
%X 幼年特发性关节炎(juvenile idiopathic arthritis, JIA)是儿童期最常见的慢性风湿性疾病，包含一组异质性疾病，机制尚不清楚。受影响患者表型可变提示容易被误诊，少数被发现是单基因突变引起免疫功能异常所致，称为免疫出生缺陷(inborn errors of immunity, IEI)。因此，在症状不典型或难治的情况下，有必要行基因检查。本综述旨在总结JIA的免疫发病机制以及模拟幼年关节炎表型的IEI，提高临床认识和增加对JIA关键分子途径的理解。<br />
Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease in childhood, including a group of heterogeneous diseases, and the mechanism is still unclear. The variable phenotype of affected patients indicates that they are easily misdiagnosed, and a few are found to be caused by abnormal immune function caused by monogenic mutation, which is called inborn errors of immunity (IEI). Therefore, in the case of atypical or refractory symptoms, it is necessary to carry out genetic testing. This review aims to summarize the immune pathogenesis of JIA and the IEI that mimics the phenotype of juvenile arthritis, improve clinical understanding and increase understanding of the key molecular pathways of JIA.
%K 幼年特发性关节炎，单基因，免疫出生缺陷<br>Juvenile Idiopathic Arthritis
%K Monogenic
%K Inborn Errors of Immunity
%U http://www.hanspub.org/journal/PaperInformation.aspx?PaperID=85588