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Article

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.

Frontiers in immunology - 1 Jan 2020

Staels Frederik, Betrains Albrecht, Doubel Peter, Willemsen Mathijs, Cleemput Vincent, Vanderschueren Steven, Corveleyn Anniek, Meyts Isabelle, Sprangers Ben, Crow Yanick J, Humblet-Baron Stephanie, Liston Adrian, Schrijvers Rik

Abstract excerpt

STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in STING1, also known as TMEM173, encoding for STING. It was reported as a vasculopathy of infancy. However, since its description a wider spectrum of associated manifestations and disease-onset has been observed. We report a kindred with a heterozygous STING mutation (p.V155M) in which...

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Identifiers

PMID: 33133092
DOI: 10.3389/fimmu.2020.575219
PMCID: PMC7550674

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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