{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:56:14Z","timestamp":1791294974338,"version":"4.1.0"},"reference-count":157,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>Type I interferonopathies (TI-IFN) represent a heterogeneous group of autoinflammatory disorders characterized by upregulated type I interferon (IFN) signaling. Among them, STING-associated vasculopathy with onset in infancy (SAVI) is a rare, severe autoinflammatory disease caused by gain-of-function mutations in the STING1 gene. Mechanistically, these mutations lead to a constitutive activation of the STING protein, resulting in excessive type I interferon production, which drives chronic inflammation and damage to various organs, primarily as cutaneous vasculopathy and progressive interstitial lung disease (ILD). Emerging clinical data indicate that current therapeutic options \u2013 including Janus kinase inhibitors (JAKi), biological agents as anifrolumab and solid organ transplantation \u2013 for SAVI face limited and often inconsistent long-term efficacy, highlighting a significant unmet need. Consistently, preclinical models highlight that SAVI pathogenesis is not only driven by the interferon storm, but relies also on non-canonical IFN-independent cellular pathways across distinct hematopoietic and non-hematopoietic compartments. This review provides a comprehensive overview of SAVI pathogenesis, from mutational mechanisms and comparative phenotypes to the clinical challenges of advanced interventions. Finally, we discuss future therapeutic prospects and clinical implications, exploring next-generation frontiers such as patient-derived induced pluripotent stem cell (iPSCs) models, hematopoietic stem cell transplantation (allo-HSCT) and gene editing (GE) technologies. The transition from immune - to a mutational-perspective, provides a foundational framework to optimize diagnostic and therapeutic strategies for precision medicine in SAVI patients.<\/jats:p>","DOI":"10.3389\/fimmu.2026.1928419","type":"journal-article","created":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T09:49:46Z","timestamp":1788169786000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["SAVI: molecular mechanisms, clinical spectrum and precision medicine approaches beyond type-I IFN"],"prefix":"10.3389","volume":"17","author":[{"given":"Michele","family":"Manganelli","sequence":"first","affiliation":[{"name":"Department of Precision and Regenerative Medicine and Ionian Area, University of Bari Aldo Moro","place":["Bari, Italy"]},{"name":"Pediatric Rheumatology Unit, Giovanni XXIII Children\u2019s Hospital, Azienda Ospedaliero Universitaria Consorziale (AOU) Policlinico-Giovanni XXIII, University of 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