Dai YunFan, Liu XiuYun, Zhao ZhiPeng, He JianXin, Yin QingQin
Department of Respiratory, National Children's Medical Center, China National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, Beijing, China.
Front Pediatr. 2020 Dec 17;8:577918. doi: 10.3389/fped.2020.577918. eCollection 2020.
To summarize and analyze the manifestations of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI). A systematic literature review was performed including cases from January 1, 2014, to February 1, 2020, using PubMed, OVID, CNKI, and WanFang. This included all the literature containing comparatively complete clinical data. Statistical analysis was performed using SPSS 20.0 to analyze the difference in age of onset, severity of skin lesions, and respiratory symptoms between SAVI patients with p.N154S and p.V155M mutations. A total of 25 papers were included reporting on 51 individuals, of whom 17 had familiar inheritance of their mutation. Patients included 27 males and 24 females, and 8 fatal cases were observed. A total of 10 mutation sites have been reported in the STING gene, with p.V155M being the most prevalent. We identified SAVI as an early-onset disease with a median age of onset of 3 months after birth. Skin lesions were the most common symptoms of SAVI, found in 94.1% (48/51) of patients, while 76% (19/25) who had undergone a skin biopsy showed vasculopathy. Involvement of the lungs was identified in 68.6% (35/51) of patients, while only 22.2% (4/18) who had undergone a lung biopsy showed vasculopathy. Of 20 patients, 19 had increased immunoglobulin, mainly IgG. Furthermore, 45.1% (23/51) of patients had a positive low titer or were transiently positive for antinuclear antibodies. Of the 18 patients treated with JAK inhibitors, 6 relapsed and 2 died of acute respiratory failure caused by viral infection. Patients with p.N154S mutation had an earlier disease onset ( = 0.002) and more severe skin lesions ( < 0.001) than those patients with p.V155M mutation. SAVI is an early-onset disease accompanied by skin and lung lesions whose clinical presentation varies among patients with different genotypes. Therapeutic effects of JAK inhibitors are unsatisfactory.
总结并分析婴儿期起病的干扰素基因刺激因子（STING）相关血管病（SAVI）的表现。使用PubMed、OVID、中国知网和万方数据库，对2014年1月1日至2020年2月1日期间的病例进行了系统的文献综述。这包括所有包含相对完整临床数据的文献。使用SPSS 20.0进行统计分析，以分析携带p.N154S和p.V155M突变的SAVI患者在发病年龄、皮肤病变严重程度和呼吸道症状方面的差异。共纳入2�篇报道51例个体的论文，其中17例有突变的家族遗传。患者包括27名男性和24名女性，观察到8例死亡病例。STING基因共报道了10个突变位点，其中p.V155M最为常见。我们将SAVI确定为一种早发性疾病，中位发病年龄为出生后3个月。皮肤病变是SAVI最常见的症状，94.1%（48/51）的患者出现该症状，而76%（19/25）接受皮肤活检的患者显示有血管病变。68.6%（35/51）的患者有肺部受累，而仅22.2%（4/18）接受肺活检的患者显示有血管病变。20例患者中，19例免疫球蛋白升高，主要为IgG。此外，45.1%（23/51）的患者抗核抗体低滴度阳性或短暂阳性。在18例接受JAK抑制剂治疗的患者中，6例复发，2例死于病毒感染引起的急性呼吸衰竭。携带p.N154S突变的患者比携带p.V155M突变的患者发病更早（ = 0.002），皮肤病变更严重（ < 0.001）。SAVI是一种伴有皮肤和肺部病变的早发性疾病，其临床表现因不同基因型的患者而异。JAK抑制剂的治疗效果不理想。
