Department of Immunology, School of Basic Medical Sciences, Anhui Medical University, Hefei, China.
First School of Clinical Medicine, Anhui Medical University, Hefei, China.
Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29.
Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.
Aicardi-Goutières 综合征（AGS）是一种罕见的单基因自身免疫性疾病，主要影响儿童患者的大脑。其主要临床特征包括脑萎缩、基底节钙化、脑白质病、淋巴细胞增多和患者脑脊液（CSF）和血清中干扰素-α（IFN-α）水平升高。AGS 可能是由九个基因（TREX1、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1、ADAR1、IFIH1、LSM11 和 RNU7-1）中的任何一个突变引起的，这些突变导致自身核酸在细胞质中积累或自身核酸的异常感知。这会触发 I 型干扰素（IFN）的过度产生，从而导致 AGS，即 I 型干扰素病的原型。本综述描述了具有不同基因型的 AGS 的发现历史，并提供了 AGS 的临床表现和致病基因的最新知识。本文还讨论了 AGS 与 I 型干扰素病之间的关系以及 AGS 的潜在治疗方法。
