HSCT in SAVI: evidence for a curative hematopoietic approach and perspectives for gene therapy

Since its first description in 2014 by Raphaela Goldbach-Mansky, stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI) has been reported in less than one hundred cases and more than thirty genotypes. SAVI is a rare and severe monogenic interferonopathy caused by autosomal dominant gain-of-function mutations in STING1 (or TMEM173), encoding the STING protein.1 STING is a central adapter molecule of innate immunity, downstream cGAS, a cytosolic DNA sensor, and is ubiquitously expressed, with particularly prominent functional roles in immune and endothelial cells.