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

• Main Authors: Frederik Staels, Albrecht Betrains, Peter Doubel, Mathijs Willemsen, Vincent Cleemput, Steven Vanderschueren, Anniek Corveleyn, Isabelle Meyts, Ben Sprangers, Yanick J. Crow, Stephanie Humblet-Baron, Adrian Liston, Rik Schrijvers
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2020-09-01
• Series: Frontiers in Immunology
• Subjects: SAVI; vasculopathy; glomerulonephritis; primary immunodeficiency; interferonopathy
• Online Access: https://www.frontiersin.org/article/10.3389/fimmu.2020.575219/full
• ISSN: 1664-3224

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.