Introduction: Aicardi-Goutières syndrome (AGS) is the prototype of the type I interferonopathies, a new heterogeneous group of autoinflammatory disorders in which type I interferon plays a pivotal role. The disease usually manifests itself during infancy, primarily affecting the brain and the skin, and is characterized by cerebrospinal fluid chronic lymphocytosis and raised levels of interferon-alpha and by cardinal neuroradiological features: cerebral calcification, leukoencephalopathy and cerebral atrophy. Recently many aspects of the pathogenesis of AGS have been clarified, making it possible to hypothesize new therapeutic strategies.

Areas covered: We here review recent data concerning pathogenesis and novel therapeutic strategies in AGS, including the use of Janus kinase inhibitors, reverse transcriptase inhibitors, anti-IFN-α antibodies, anti-interleukin antibodies, antimalarial drugs and other cGAS inhibitors.

Expert opinion: Thanks to the identification of the molecular basis of AGS, many aspects of its pathogenesis have been clarified, making it possible to propose new therapeutic strategies for AGS and type I interferonopathies. A number of therapeutic options are now becoming possible, even though their efficacy is still to be proven. However, in spite of research advances coming from clinical trials and case series, there are still a number of open questions, which urgently need to be addressed.

简介：Aicardi-Goutières综合征（AGS）是I型干扰素病的原型，I型干扰素在I型干扰素中起着举足轻重的作用。该病通常在婴儿期就表现出来，主要影响大脑和皮肤，其特征是脑脊液慢性淋巴细胞增多和干扰素-α水平升高，以及主要的神经放射学特征：脑钙化，白质脑病和脑萎缩。最近，已经阐明了AGS发病机理的许多方面，从而有可能提出新的治疗策略。

涵盖的领域：我们在这里回顾有关AGS发病机理和新型治疗策略的最新数据，包括使用Janus激酶抑制剂，逆转录酶抑制剂，抗IFN-α抗体，抗白介素抗体，抗疟疾药物和其他cGAS抑制剂。

专家意见：由于鉴定了AGS的分子基础，因此阐明了其发病机理的许多方面，从而有可能提出针对AGS和I型干扰素病的新治疗策略。即使其疗效尚待证实，许多治疗选择现在也变得可能。然而，尽管来自临床试验和病例系列的研究取得了进展，但仍然存在许多悬而未决的问题，迫切需要解决。