Frontiers in Immunology (Sep 2020)

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

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

DOI
https://doi.org/10.3389/fimmu.2020.575219
Journal volume & issue
Vol. 11

Abstract

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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 the 19-year-old proband suffered from isolated adult-onset ANCA-associated vasculitis. His father suffered from childhood-onset pulmonary fibrosis and renal failure attributed to ANCA-associated vasculitis, and died at the age of 30 years due to respiratory failure. In addition, an overview of the phenotypic spectrum of SAVI is provided highlighting (a) a high phenotypic variability with in some cases isolated manifestations, (b) the potential of adult-onset disease, and (c) a novel manifestation with ANCA-associated vasculitis.

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