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.