ArticleBMC gastroenterology2016
Novel exonic mutation inducing aberrant splicing in the IL10RA gene and resulting in infantile-onset inflammatory bowel disease: a case report.
Article in BMC gastroenterology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 44 citations in OpenAlex.
- Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.Frontiers in immunology · 2021Pooled it
- A Comprehensive Review of IL-10 and IL-10 Receptor Deficiencies: From Basic Science to Clinical Bedside.Clinical reviews in allergy & immunology · 2026Review
- Thalidomide-mediated immunomodulation in a patient withFrontiers in immunology · 2026Article
- Identification of NovelCase reports in medicine · 2025Article
- Successful Allogeneic Hematopoietic Cell Transplantation for Patients with IL10RA Deficiency in Japan.Journal of clinical immunology · 2024Article
- The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.Genome medicine · 2024Article
- Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency.Journal of clinical immunology · 2024Article
- Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.Frontiers in immunology · 2023Article
- The regulatory role of alternative splicing in inflammatory bowel disease.Frontiers in immunology · 2023Review
- Landscape of inflammatory bowel disease in Singapore.Intestinal research · 2022Review
- RNA metabolism and links to inflammatory regulation and disease.Cellular and molecular life sciences : CMLS · 2021Review
- Valuable clinical indicators for identifying infantile-onset inflammatory bowel disease patients with monogenic diseases.World journal of gastroenterology · 2021Article
- A Novel Immune-Related Competing Endogenous RNA Network Predicts Prognosis of Acute Myeloid Leukemia.Frontiers in oncology · 2020Article
- Neonatal Crohn's disease with Oral ulcer as the first symptom caused by a compound heterozygote mutation in IL-10RA: a case report.Hereditas · 2019Article
- [Features and management of very early onset inflammatory bowel disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Review
- Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China.World journal of gastroenterology · 2018Article
- Computational Protein Phenotype Characterization of IL10RA Mutations Causative to Early Onset Inflammatory Bowel Disease (IBD).Frontiers in genetics · 2018Article
- IL-10 and IL-10 Receptor Mutations in Very Early Onset Inflammatory Bowel Disease.Gastroenterology research · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundAlthough 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. CASE PRESENTATION: A Japanese boy, who was the first child of non-consanguineous healthy parents, developed bloody diarrhea, perianal fistula, and folliculitis in early infancy and was diagnosed with inflammatory bowel disease. He also developed immune thrombocytopenic purpura and transient features mimicking juvenile myelomonocytic leukemia. The patient failed to respond to various treatments, including elemental diet, salazosulfapyridine, metronidazole, corticosteroid, infliximab, and adalimumab. We identified a novel mutation (c.537G > A, p.T179T) in exon 4 of the IL10RA gene causing unique splicing aberrations and resulting in lack of signaling through the interleukin-10 receptor. At 21 months of age, the patient underwent allogeneic hematopoietic stem cell transplantation and achieved clinical remission.
conclusionsWe describe a novel exonic mutation in the IL10RA gene resulting in infantile-onset inflammatory bowel disease. This mutation might also be involved in his early-onset hematologic disorders. Physicians should be familiar with the clinical phenotype of IL-10 signaling defects in order to enable prompt diagnosis at an early age and referral for allogeneic hematopoietic stem cell transplantation.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.