Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium.
Department of Microbiology, Immunology and Transplantation, Immunogenetics Research Group, KU Leuven, Leuven, Belgium.
Front Immunol. 2020 Sep 29;11:575219. doi: 10.3389/fimmu.2020.575219. eCollection 2020.
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.
STING 相关性血管病伴婴儿期起病（SAVI）是一种常染色体显性遗传病，由编码 STING 的 基因获得性功能突变引起。它曾被报道为一种婴儿期血管病。然而，自其描述以来，已观察到更广泛的相关表现和发病年龄。我们报告了一个家系，其 STING 基因存在杂合突变（p.V155M），19 岁的先证者患有孤立性成人起病的 ANCA 相关性血管炎。他的父亲在儿童期患有肺纤维化和由 ANCA 相关性血管炎引起的肾衰竭，因呼吸衰竭在 30 岁时死亡。此外，还提供了 SAVI 表型谱的概述，强调了（a）表型高度变异性，在某些情况下存在孤立表现，（b）成人起病的可能性，以及（c）与 ANCA 相关性血管炎相关的新表现。
