Latour-Álvarez I, Murcia-Clemente L, Vázquez Pigueiras I, Garramone-Ramírez J E, Clemente D, Sanz V, Torrelo A
Department of Dermatology, Hospital Universitario del Vinalopó, Elche, Spain.
Department of Pediatric Pneumology, Hospital Universitario del Vinalopó, Elche, Spain.
Pediatr Dermatol. 2024 Sep-Oct;41(5):893-896. doi: 10.1111/pde.15620. Epub 2024 Apr 29.
STING-associated vasculopathy with onset in infancy (SAVI) is caused by pathogenic gain-of-function variants in the gene TMEM173 (also named stimulator of interferon genes, STING1). This report details the case of an 11-year-old girl with SAVI who presented with skin-limited symptoms and discusses the phenotype-genotype correlations of the TMEM173 variant present in our patient. Treatment of SAVI focuses on preventing the development or progression of organ damage by reducing systemic inflammation. We summarize the available treatments for this syndrome.
婴儿期起病的STING相关血管病（SAVI）由基因TMEM173（也称为干扰素基因刺激物，STING1）中的致病性功能获得性变异引起。本报告详细介绍了一名患有SAVI的11岁女孩的病例，该女孩表现出皮肤局限性症状，并讨论了我们患者中存在的TMEM173变异的表型-基因型相关性。SAVI的治疗重点是通过减轻全身炎症来预防器官损伤的发生或进展。我们总结了该综合征的现有治疗方法。
