Laboratory of Neurogenetics and Neuroinflammation, Imagine Institute, Paris, France.
General Paediatrics, Infectious Disease and Internal Medicine Department, Hôpital Robert Debré, AP-HP, Paris, France.
Curr Rheumatol Rep. 2020 Jun 16;22(7):32. doi: 10.1007/s11926-020-00909-4.
Type I interferonopathies are monogenic autoinflammatory diseases induced by constitutive activation of type I interferon. Here, we provide an overview of these diseases and describe underlying molecular pathways, related phenotypes, suggestive clinical signs and investigations for helping diagnosis process and therapeutic management.
Recent genetic and functional discoveries have enabled deciphering mechanisms involved in the pathogenesis of the type I interferonopathies and considering promising targeted treatments, such as JAK inhibitors, both for monogenic and multifactorial interferon-related diseases. The concept of the type I interferonopathies rests on the assumption that some diseases arise from a disturbance of interferon signalling pathway. In the presence of suggestive clinical signs (especially involving the central nervous system and the skin), a consistent positive type I interferon assessment is a further point in favour of genetic investigations in patients. This review also highlights the potential value of targeted therapeutics that should improve features of type I interferonopathies, thereby providing a validation of the underlying hypothesis.
I 型干扰素病是由 I 型干扰素组成性激活引起的单基因自身炎症性疾病。本文概述了这些疾病，并描述了潜在的分子途径、相关表型、提示性临床特征和检查，以帮助诊断过程和治疗管理。
最近的遗传和功能发现使人们能够阐明 I 型干扰素病发病机制中涉及的机制，并考虑了有前途的靶向治疗方法，如 JAK 抑制剂，用于单基因和多因素干扰素相关疾病。I 型干扰素病的概念基于这样一种假设，即某些疾病是由于干扰素信号通路的紊乱引起的。在存在提示性临床特征（特别是涉及中枢神经系统和皮肤）的情况下，持续的 I 型干扰素阳性评估进一步支持对患者进行基因检查。本文还强调了靶向治疗的潜在价值，这应该可以改善 I 型干扰素病的特征，从而验证潜在的假设。
