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

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