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We systematically screened 43,731 exomes from the Penn Medicine Biobank, revealing five additional unrelated adults with SAVI-associated STING gain-of-function mutations, including several patients with clinical features of SAVI, as well as asymptomatic individuals with type I IFN signatures. We propose the term adult-onset STING-associated vasculopathy (AO-SAVI) to describe these patients. Our findings challenge the conventional symptom-driven diagnostic paradigm, revealing that parallel molecular classification can uncover shared mechanisms and genetic etiologies across seemingly distinct diseases.<\/jats:p>","DOI":"10.70962\/jhi.20250235","type":"journal-article","created":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T06:21:59Z","timestamp":1775802119000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Adult-onset STING-associated vasculopathy"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0194-7562","authenticated-orcid":true,"suffix":"IV","given":"Thomas R.","family":"Riley","sequence":"first","affiliation":[{"name":"University of Pennsylvania Perelman School of Medicine 1 Division of Rheumatology, Department of Medicine, , Philadelphia, 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