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Published in 2021 at "Journal of clinical immunology"
DOI: 10.1007/s10875-021-00977-w
Abstract: PURPOSE STING-associated vasculopathy with onset in infancy (SAVI) is a type-I interferonopathy, characterized by systemic inflammation, peripheral vascular inflammation, and pulmonary manifestations. There are three reports of SAVI patients developing liver disease, but no report…
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Keywords:
age;
vasculopathy onset;
sting associated;
liver transplantation ... See more keywords
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Published in 2022 at "Medicine"
DOI: 10.1097/md.0000000000031832
Abstract: Background: Stimulator of interferon gene (STING)-associated vasculopathy with onset in infancy (SAVI), caused by gain-of-function mutations in human transmembrane protein 173 (TMEM173), is characterized by widespread chronic inflammation primarily affecting the skin and lungs. Although…
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Keywords:
associated vasculopathy;
sting associated;
infant onset;
tofacitinib infant ... See more keywords
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Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-epa.717
Abstract: Background and aims Stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) is firstly described in 2014 as a type I interferonopathy that resulting from heterozygous mutations of TMEM173. This gene encodes the…
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Keywords:
two missed;
vasculopathy onset;
sting associated;
onset infancy ... See more keywords