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

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

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...

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Bibliographic Details
Main Authors: Sophia Weidler, Sarah Koss, Christine Wolf, Nadja Lucas, Jürgen Brunner, Min Ae Lee-Kirsch
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Pediatric Rheumatology Online Journal
Subjects:
STING-associated vasculopathy with onset in infancy
Type I interferon
Stimulator of interferon genes
Interstitial lung disease
Alopecia
Chilblain lupus
Online Access:https://doi.org/10.1186/s12969-023-00934-4

Internet

https://doi.org/10.1186/s12969-023-00934-4

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