NIH R01 · 2025
Human ISG15 and USP18 Deficiencies Underlying Type I Interferonopathies
Project Summary Type I interferons (IFN-Is) have well-documented potent antiviral and inflammatory properties. However, we and others have shown that the inflammatory effects of these cytokines can have detrimental effects on human health. Disorders caused by the prolonged effects of IFN-Is are collectively known as type I interferonopathies. Mendelian type I interferonopathies, such as Aicardi–Goutières syndrome (AGS) and spondyloenchondromatosis (SPENCD) are prime examples of severe neurologic, autoinflammatory and autoimmune diseases caused by the perpetual induction of IFN-Is. We have recently described more than 20 children presenting Mendelian type I interferonopathy. Genetically, we…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.