Sequence Analysis of TNFRSF13b, Encoding TACI, in a Patient with Very Early Onset Inflammatory Bowel Disease: a Case Report

• 作者: Jiaying Shen
• 来源期刊: 医学科学进展杂志(英文)
• 学科: 医学
• 关键词: VEO-IBD TNFRSF13B TACI Treatment MUTATION
• 年，卷（期）: 2018,（4）
• 页码范围: 110-114
• 页数: 5页
• 分类号: R

摘要

Very early onset inflammatory bowel disease (VEO-IBD), IBD diagnosed before 6 years of age, frequently presents with increased severity, aggressive progression, and often poor response to conventional treatments. Although the cause of IBD is generally considered to be intestinal immune dysfunction induced by polygenic mutations and environment and other factors, VEO-IBD has a stronger genetic susceptibility specifically the neonatal- or infantile-onset IBD. Herein we report compound heterozygous mutations in the tumor necrosis factor receptor superfamily member 13b (TNFRSF13B) gene in a 3-year-old male that was admitted to our hospital with lasted jaundice, repeated fever and diarrhea in May 2014 at 2-month-old. He was diagnosed with VEO-IBD based on clinical, laboratory and histopathological examination. However, he was unresponsive to the conventional therapy, including the nutritional support therapy, antibiotic and immunosuppressive treatment, and surgical release of neonatal intestinal obstruction. Novel compound heterozygous mutations, c.[365G>A];[452C>T](p.[R122Q];[P151L]), were discovered in TNFRSF13B, encoding TACI, for this patient.