Objective: To analyze the clinical features and interleukin-10 receptor gene mutations in six infants with very early onset inflammatory bowel disease (VEO-IBD). Methods: Four girls and two boys with VEO-IBD admitted to Children's Hospital Affiliated to Capital Institute of Pediatrics from June 2016 to September 2017 were reviewed. The clinical data including general condition, clinical symptoms, laboratory tests, and colonoscopy and pathological results were collected and analyzed. Interleukin-10 receptor α subunit (IL-10RA) gene was examined in all patients. Results: Persistent diarrhea and fever were the most common symptoms and were found within 1 month after birth in all 6 patients. Anemia, oral ulcer or perianal lesions and growth retardation were common concomitant symptoms. All patients had colonoscopy examination and the results showed multiple ulcers affecting the colon with biopsies revealing acute and chronic inflammation. Three patients were found to have cryptitis and crypt abscesses. Gene sequencing revealed IL-10RA gene mutations in all six patients, including 3 cases with homozygous mutations (one with c.537G>A and two with c.301C>T) and 3 heterozygous mutations (paternal c.301C>T in all cases; maternal c.299T>G, c.350G>A and c.537G>A, respectively) . After conventional treatment, one got clinical and pathological improvement according to colonoscopy, three improved clinically, one worsened and died, and one died of septic shock secondary to intestinal perforation. Conclusions: VEO-IBD is associated with IL-10RA mutation, usually with severe intestinal symptoms and significant extra-intestinal symptoms, as well as varied responses to conventional treatment. In our study, c.301C>T and c.537G>A are the most common mutations. Publisher: 目的： 总结白细胞介素10受体A（IL-10RA）基因突变致极早发型炎症性肠病（VEO-IBD）临床特点和基因突变位点。 方法： 收集2016年6月至2017年9月在首都儿科研究所附属儿童医院确诊的6例VEO-IBD患儿，女4例，男2例，回顾性总结患儿临床资料，完善结肠镜和病理检查，目标基因捕获高通量测序检测确定IL-10RA基因突变位点。 结果： 6例患儿均在生后1个月内起病，以腹泻、发热为首发症状，伴有肠外表现贫血、口腔或肛周溃疡，且体重增长迟缓；结肠镜下表现为结肠广泛分布的溃疡，病理为非特异性的肠道炎症，3例有隐窝炎或隐窝脓肿。与IBD相关的基因检测结果显示6例均有IL-10RA基因突变，其中3例纯合突变，1例为c.537G>A，2例为c.301C>T；3例复合杂合突变，均有c.301C>T突变，来自于患儿父亲，母亲携带的基因变异分别位于第299、350和537位碱基（c.299T>G，c.350G>A，c.537G>A）。6例患儿均予内科药物治疗，1例临床及结肠镜下病变均明显好转，3例临床症状好转，1例病情恶化后死亡，1例因肠穿孔后感染性休克死亡。 结论： VEO-IBD与IL-10RA基因缺陷有关，起病早，临床症状重，肠外表现明显，临床治疗效果不一，其中c.301C>T、c.537G>A是本组病例中最常见的IL-10RA基因突变点。.