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
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England: BioMed Central Ltd
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English
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England: BioMed Central Ltd
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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 autoinflammation and various degrees of immunodeficiency and autoimmunity.
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A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_9c3ece32fb244e11b0b443255eef6753
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9c3ece32fb244e11b0b443255eef6753
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ISSN
1546-0096
E-ISSN
1546-0096
DOI
10.1186/s12969-023-00934-4
