WES in a patient with autoinflammatory disease

Type I interferonopathies are a group of inherited autoinflammatory disorders characterized by dysregulation of type I interferon (IFN-I) signaling pathways. ISG15, a unique Ubiquitin-like (Ubl) modifier in the interferon-stimulated genes (ISGs) family, plays a critical role in innate immune responses induced by IFN-I.In this study, we used WES to identify a novel homozygous missense variant of the ISG15 gene in a 4-month-old patient with type I interferon.

I型干扰素病（Type I interferonopathies）是一类以I型干扰素（IFN-I）信号通路失调为特征的遗传性自身炎症性疾病。ISG15是干扰素刺激基因（interferon-stimulated genes, ISGs）家族中一种独特的泛素样（Ubiquitin-like, Ubl）修饰蛋白，在IFN-I诱导的先天免疫应答中发挥关键作用。本研究通过全外显子测序（WES）在一名4月龄的I型干扰素相关患者中鉴定出ISG15基因的一种新型纯合错义变异。