DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.
Lev PrasovBrenda L BohnsackAntonette S El HusnyLam C TsoiBin GuanJ Michelle KahlenbergEdmundo AlmeidaHaitao WangEdward W CowenAdriana A De JesusPriyam JaniAllison C BilliSayoko E MoroiRachael WasikowskiIzabela AlmeidaLuciana N AlmeidaFernando KokSarah J GarnaiShahzad I MianMarcus Y ChenBlake M WarnerCarlos R FerreiraRaphaela Goldbach-ManskySun HurBrian P BrooksJulia E RichardsRobert B HufnagelJohann E GudjonssonPublished in: Journal of medical genetics (2021)
These results expand the genotypic spectrum of DDX58-associated disease, provide the first detailed description of ocular and dermatological phenotypes, expand our understanding of the molecular pathogenesis of this condition and provide a platform for testing response to therapy.