RNA-Sequencing 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 identified a novel homozygous missense variant in ISG15 gene in a 4-month-old patient with Type I interferonopathy. RNA-sequencing was used to explore the expression levels of IFN pathway genes in this patient.