HSCT in SAVI: evidence for a curative hematopoietic approach and perspectives for gene therapy
Abstract
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.
Fields of Study & Subjects
Virus-based gene therapy research
RNA Interference and Gene Delivery
Autoimmune and Inflammatory Disorders Research
Publication details
- Journal / source
- Molecular Therapy Advances
- Publisher
- Elsevier BV
- Volume
- 34
- Issue
- 3
- Pages
- 201784–201784
- Publication date
- 30 June 2026
- Language
- EN