Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report

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• 作者：Tadahiro Yanagi ; Tatsuki Mizuochi ; Yugo Takaki ; Keisuke Eda…
• 关键词：IL ; 10 ; IL ; 10 receptor ; infantile ; onset inflammatory bowel disease ; hematopoietic stem cell transplantation
• 刊名：BMC Gastroenterology
• 出版年：2016
• 出版时间：December 2016
• 年：2016
• 卷：16
• 期：1
• 全文大小：493 KB
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• 作者单位：Tadahiro Yanagi (1)
  Tatsuki Mizuochi (1)
  Yugo Takaki (1)
  Keisuke Eda (1)
  Keiichi Mitsuyama (2)
  Masataka Ishimura (3)
  Hidetoshi Takada (3)
  Dror S. Shouval (4) (5)
  Alexandra E. Griffith (4)
  Scott B. Snapper (4) (5) (6)
  Yushiro Yamashita (1)
  Ken Yamamoto (7)
  
  1. Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume, 830-0011, Japan
  2. Division of Gastroenterology Department of Medicine, Kurume University School of Medicine, Kurume, Japan
  3. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan
  4. Division of Gastroenterology, Hepatology and Nutrition, Boston Children’s Hospital, Boston, MA, USA
  5. Harvard Medical School, Brigham and Women’s Hospital, Boston, MA, USA
  6. Division of Gastroenterology, Brigham and Women’s Hospital, Boston, MA, USA
  7. Department of Medical Chemistry, Kurume University School of Medicine, Kurume, Japan
  
• 刊物主题：Gastroenterology; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-230X

文摘

Background Although deleterious mutations in interleukin-10 and its receptor molecules cause severe infantile-onset inflammatory bowel disease, there are no reports of mutations affecting this signaling pathway in Japanese patients. Here we report a novel exonic mutation in the IL10RA gene that caused unique splicing aberrations in a Japanese patient with infantile-onset of inflammatory bowel disease in association with immune thrombocytopenic purpura and a transient clinical syndrome mimicking juvenile myelomonocytic leukemia.