Abstract：
STING-associated vasculopathy with onset in infancy (SAVI) is a rare, monogenic interferonopathy caused by gain-of-function variants in STING1 (TMEM173) characterized by systemic inflammation, cutaneous vasculopathy, and interstitial lung disease. We report a case of SAVI attributed to a novel STING1 p.R284T variant who demonstrated characteristic cutaneous features including telangiectasias, livedo and acrocyanotic changes on face and extremities, as well as saddle nose deformity, failure to thrive, inflammatory arthritis and notable lack of pulmonary disease or autoantibody positivity. Due to the risk for progressive and irreversible lung and tissue damage and evolving therapeutic landscape involving the use of Janus kinase inhibitors, it is critical to recognize variable clinical phenotypes to diagnose and consider treatment options for SAVI patients early in their disease course.
摘要：
在婴儿期发病的STING相关血管病变（SAVI）是一种罕见的，由STING1（TMEM173）中的功能获得变体引起的单基因干扰素病，其特征是全身性炎症，皮肤血管病变,和间质性肺病.我们报告了一例SAVI，该SAVI归因于一种新型STING1p.R284T变体，该变体表现出特征性皮肤特征，包括毛细血管扩张，面部和四肢上的livedo和肢端发青的变化，以及马鞍鼻畸形，未能茁壮成长，炎性关节炎和明显缺乏肺部疾病或自身抗体阳性。由于进行性和不可逆的肺和组织损伤的风险以及涉及使用Janus激酶抑制剂的不断发展的治疗前景，识别各种临床表型对于SAVI患者在病程早期诊断和考虑治疗方案至关重要.
