[Stimulator of interferon genes-associated vasculopathy with onset in infancy: first case report in China].

Objective: To summarize the clinical characteristics and treatment efficacy of the first reported case of a Chinese boy with stimulator of interferon genes (STING) associated vasculopathy with onset in infancy (SAVI). Methods: Sanger sequencing of the gene TMEM173 was performed based on systemic evaluation and clinical analysis of a highly suspected SAVI child admitted to Peking Union Medical College Hospital. A literature search (search terms included 'STING''SAVI''autoinflammatory diseases' and 'interferonopathy') was conducted using Chinese literature database, EMBASE and PubMed to include recently published SAVI studies (searched from January 2010 to December 2017). Results: A 14-year-old boy who had a history of chronic dry cough along with decreased activity tolerance after birth presented with growth retardation, chilblain lesions on the ear, telangiectasia of multiple skin areas and long clubbed fingers. His C-reactive protein was 21 mg/L, erythrocyte sedimentation rate was 78 mm/1h, and IgG was 22.16 g/L. The high-resolution computed tomography (HRCT) revealed interstitial lung diseases and echocardiography showed pulmonary artery hypertension, with a level of 61 mmHg (1 mmHg=0.133 kPa). Genetic mutation of TMEM173 (c.463G>A, p.V155M) was confirmed by Sanger sequencing. His activity tolerance increased to some extent after treatment with tofacitinib at a dose of 5 mg twice a day. Our review yielded 8 publications (8 English and 0 Chinese) . To date 20 cases have been reported worldwide, who mostly presented with skin and lung involvement as well as growth retardation. Conclusions: SAVI has been included within the spectrum of interferonopathy, which is a kind of autoinflammatory diseases as well. Typical clinical features include chilblain skin lesions, interstitial lung disease, growth retardation, elevated IgG levels, and increased inflammation markers. Janus kinase (JAK) inhibitors may offer benefit for SAVI patients.目的： 总结中国首例干扰素基因刺激蛋白（STING）相关婴儿期起病的血管病（SAVI）的病例特点和初步疗效观察。 方法： 分析2017年11月北京协和医院儿科收治的1例高度疑似SAVI患儿的病例特点，并用Sanger测序进行患儿及其生物学父母相应突变位点验证明确诊断。以"STING""SAVI""自身炎症性疾病""干扰素通路疾病"为检索词，检索2010年1月至2017年12月中文数据库及Embase、Pubmed数据库进行文献复习。 结果： 患儿 男，14岁，生后起病，以反复干咳伴活动耐力下降为主要表现，伴有生长受限、反复冻疮样皮疹、毛细血管扩张和长的杵状指，实验室检查：红细胞沉降率78 mm/1 h，C反应蛋白21 mg/L，免疫球蛋白G 22.16 g/L，胸部高分辨CT提示间质性肺病，超声心动提示肺动脉高压[61 mmHg（1 mmHg=0.133 kPa）]。经Sanger测序发现患儿TMEM173基因新生杂合突变：c.463G>A, p.V155M，经托法替尼5 mg，2次/d治疗后患儿活动耐力较前增加。文献检索共8篇，中文0篇，英文8篇，全世界目前共有20例SAVI病例，多伴有生长受限、皮肤和肺部的受累。 结论： SAVI是自身炎症性疾病中干扰素通路疾病中的一种，多以反复冻疮样皮疹、间质性肺病、生长受限、免疫球蛋白G升高、炎性指标升高为临床表现，Janus激酶抑制剂对该病有一定疗效。.