A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report

• Main Authors: Sophia Weidler (Author), Sarah Koss (Author), Christine Wolf (Author), Nadja Lucas (Author), Jürgen Brunner (Author), Min Ae Lee-Kirsch (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overactivation of type I interferon (IFN) signaling leading to autoinflam...