ArticleJournal of human genetics2014
Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 74 citations in OpenAlex.
- Clinical Phenotypes and Genetic Findings in Very-Early-Onset Inflammatory Bowel Disease: A Vietnamese Pediatric Cohort Study.Children (Basel, Switzerland) · 2026Article
- Serum cytokine inflammatory profile in children with ulcerative colitis during 6-month follow-up.Scientific reports · 2025Article
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Inflammatory bowel disease in paediatrics: Navigating the old challenges and emerging frontiers.World journal of gastroenterology · 2025Review
- Charge-based immunoreceptor signalling in health and disease.Nature reviews. Immunology · 2025Review
- Development of Anti-Inflammatory Agents Utilizing DC-SIGN Mediated IL-10 Secretion in Autoimmune and Immune-Mediated Disorders: Bridging Veterinary and Human Health.International journal of molecular sciences · 2025Review
- Gut-microbiota-based ensemble model predicts prognosis of pediatric inflammatory bowel disease.iScience · 2024Article
- Infantile inflammatory bowel disease in three Syrian infants: a case series.Journal of medical case reports · 2024Article
- Heterozygous variants ofHeliyon · 2024Article
- Etiology of IBD-Is It Still a Mystery?International journal of molecular sciences · 2022Review
- Interleukin-10 regulates goblet cell numbers through Notch signaling in the developing zebrafish intestine.Mucosal immunology · 2022Article
- Autosomal recessive 333 base pair interleukin 10 receptor alpha subunit deletion in very early-onset inflammatory bowel disease.World journal of gastroenterology · 2021Article
- Article
- Case Report: A Novel Compound Heterozygous Mutation inFrontiers in pediatrics · 2021Article
- Pediatric inflammatory bowel disease: Is it really uncommon in Asian children?JGH open : an open access journal of gastroenterology and hepatology · 2020Article
- Intestinal Microbes in Autoimmune and Inflammatory Disease.Frontiers in immunology · 2020Review
- [Construction of rat interleukin-10 adenoviral vector and its expression in bone marrow mesenchymal stem cells].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Review
- Current concepts in pediatric inflammatory bowel disease; IL10/IL10R colitis as a model disease.International journal of pediatrics & adolescent medicine · 2019Review
- Recent Advance in Very Early Onset Inflammatory Bowel Disease.Pediatric gastroenterology, hepatology & nutrition · 2019Review
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Infantile periods may have stronger genetic influences. Recently, studies on genetic defects in the interleukin-10 (IL-10) signaling pathway have provided new insights into inflammatory bowel disease (IBD). This study is to reveal whether mutations of IL-10 signaling pathway genes contribute to the phenotypes of IBD. Forty children who were diagnosed with IBD below the age of 10 years were enrolled. We sequenced the genes interleukin-10 receptor A (IL-10RA), IL-10RB and IL-10, and analyzed the clinical characteristics of very early-onset IBD (VEO-IBD). In total, 14 out of the 40 children developed their symptoms within 1 year of age. We found mutations in IL-10RA in 7 out of the 40 children (17.5%). All seven children had developed symptoms within the first year of life. Particularly, half of the children with infantile-onset IBD had IL-10RA mutations. None of the remaining 26 children diagnosed above 1 year of age had IL-10RA mutations. No mutations were found in IL-10RB and IL-10. Identified IL-10RA mutations were p.(R101W), p.(Y91C), p.(R262C), p.(R117H) and p.(W69R). IL-10RA mutations were associated with onset of infancy (P<0.001), perianal fistulae (P<0.001), poor response to medical management (P=0.017) and early surgical interventions (P<0.001). VEO-IBD in infancy is phenotypically and genetically different disease entity from adult-onset or older child-onset IBD. It has a strong association with IL-10 receptor gene. We should consider the genotyping of genes of the IL-10 signaling pathway including IL-10RA in patients with VEO-IBD, especially in whom with onset of perianal fistulae and severe colitis.
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