Abstract: Clinical data of three cases of STING-associated vasculopathy with onset in infancy（SAVI）were collected，diagnosed and treated at Shandong Provincial Hospital Affiliated to Shandong First Medical University between Jan. 2020 and Dec. 2023. A review of the relevant literature was then conducted in order to analyze the clinical features，genetic characteristics and therapeutic approaches. The results demonstrated that all three cases had their onsets in infancy and exhibited a dry cough and shortness of breath; two cases presented with rash，one case displayed recurrent fever，and one case exhibited a pestle-and-mortar finger. All cases demonstrated interstitial pneumonitis on chest CT；all cases exhibited de novo mutations in the TMEM173 gene by genetic testing. Case 1 was treated with glucocorticoids，case 2 with tofacitinib，and case 3 with a combination of the two. The rashes and shortness of breath were relieved in the tofacitinib-treated cases （cases 2 and 3），but the interstitial lung disease did not improve significantly. Ultimately，case 1 died of respiratory failure. A summary of the literature reports shows that the onset of SAVI is mostly in infancy，and the early symptoms are insidious, with skin rash，interstitial lung disease，recurrent fever，shortness of breath and growth restriction being the main clinical features. Genetic testing is the gold standard for diagnosis. JAK inhibitors are partially effective in the treatment of SAVI.

Key words: STING-associated vasculopathy with onset in infancy, STING, type I interferonopathy, JAK inhibitor

摘要： 收集2020年1月至2023年12月期间山东第一医科大学附属省立医院收治的3例干扰素基因刺激蛋白（STING）相关婴儿期起病的血管病（STING-associated vasculopathy with onset in infancy，SAVI）的临床资料，并复习相关文献，分析临床及遗传学特点和治疗。3例患儿均婴儿期起病，均有干咳、气促表现，2例皮疹，1例反复发热，1例杵状指；胸部CT描均表现间质性肺炎；行基因检测发现TMEM173基因均为新生突变。病例1应用糖皮质激素，病例2应用托法替布，病例3为二者的联合治疗；病例2和3经托法替布治疗的皮疹与气促有所缓解，间质性肺病改善不明显，病例1最终因呼吸衰竭死亡。综合文献报道，SAVI多在婴儿期起病，早期症状隐匿，以皮疹、间质性肺病、反复发热、气促及生长发育受限为主要临床特征，基因检测可最终确诊，Janus激酶（JAK）抑制剂对SAVI的治疗部分有效。

关键词: 干扰素基因刺激蛋白相关婴儿期起病的血管病, 干扰素基因刺激蛋白, I型干扰素病, JAK抑制剂