JOURNAL OF SHANGHAI JIAOTONG UNIVERSITY (MEDICAL SCIENCE) ›› 2021, Vol. 41 ›› Issue (3): 409-412.doi: 10.3969/j.issn.1674-8115.2021.03.023

• Case report • Previous Articles    

Study on interleukin-10 receptor A gene mutations-induced neonatal very early onset inflammatory bowel disease in 2 infants

Yu-jie XIE(), Li-juan XIE, Tian-wen ZHU, Yi-wen WANG()   

  1. Department of Neonatology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China
  • Received:2020-05-11 Online:2021-03-28 Published:2021-04-06
  • Contact: Yi-wen WANG;


In April, 2019, a 36-day-old boy having presented chronic bloody diarrhea for 14 d went to hospital. He developed oral ulcer and perianal abscess,and was taken to surgery. The colonoscopy showed severe ulcerations with granuloma in colon and superficial ulceration in ileum. Genetic analysis of the patient showed compound heterozygous mutations in interleukin-10 recepter A (IL-10RA) gene mutation (c.301C>T,c.537G>A ) and the patient was diagnosed with very early onset inflammatory bowel disease (VEO-IBD). Significant growth failure, chronic diarrhea and perianal abscess was administered when he was 6 months old. The patient 2 was a 9-day-old boy and presented fever and cough.Chronic diarrhea and perianal abscess were noted after admission, which didn't respond to broad-spectrum antibiotics. The colonoscopy showed small ulcers in the colon and histology showed chronic active inflammation with cryptitis and granuloma in the colon, consistent with Crohn's disease. IL-10RA gene (c.106G>A,c.299T>G) deficiency was confirmed by sanger sequencing. Thalidomide were used to control intestinal inflammation and hemopoietic stem cell transplantation was planned to be performed at the age of 4 months.

Key words: interleukin-10 receptor A (IL-10RA), very early onset inflammatory bowel disease (VEO-IBD), neonate, gene mutation

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