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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
Frontiers in immunology, 09/2020, Letnik: 11Journal Article
STING-associated vasculopathy with onset in infancy (SAVI) is an autosomal dominant disorder due to gain-of-function mutations in , also known as , 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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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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