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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Hlavní autoři:	Sophia Weidler, Sarah Koss, Christine Wolf, Nadja Lucas, Jürgen Brunner, Min Ae Lee-Kirsch
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-01-01
Edice:	Pediatric Rheumatology Online Journal
Témata:	STING-associated vasculopathy with onset in infancy Type I interferon Stimulator of interferon genes Interstitial lung disease Alopecia Chilblain lupus
On-line přístup:	https://doi.org/10.1186/s12969-023-00934-4
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