Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.
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SUBMITTER: Staels F
PROVIDER: S-EPMC7550674 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
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Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature.
Staels Frederik F Betrains Albrecht A Doubel Peter P Willemsen Mathijs M Cleemput Vincent V Vanderschueren Steven S Corveleyn Anniek A Meyts Isabelle I Sprangers Ben B Crow Yanick J YJ Humblet-Baron Stephanie S Liston Adrian A Schrijvers Rik R
Frontiers in immunology 20200929
STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in <i>STING1</i>, also known as <i>TMEM173</i>, 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 the 19-year-old proband suffered from isolated adult-onset ANCA-associa ...[more]
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