ArticleNature communications2020
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Erratum issuedOpen access · goldAbstract readCase Reports
In one paragraph
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 36 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed, 2 pooled it
2.9field-weighted citation impact, top 8% of its field
What it found
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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.
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Who cites it
36 citing papers in PubMed, 2 syntheses or guidelines pooled it, 64 citations in OpenAlex.
- Reshaping study design for faster extrapolation-based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN-NASPGHAN position paper.Journal of pediatric gastroenterology and nutrition · 2026Pooled it
- Epilepsy in Parry-Romberg syndrome and linear scleroderma en coup de sabre: Case series and systematic review including 140 patients.Epilepsy & behavior : E&B · 2021Pooled it
- Monogenic forms of inflammatory bowel disease: Genetic mechanisms, models, and clinical implications.Molecular medicine (Cambridge, Mass.) · 2026Review
- Inflammatory bowel diseases: pathological mechanisms and therapeutic perspectives.Molecular biomedicine · 2026Review
- Somatic mosaicism of CYBB causing atypical CGD with inflammatory symptoms.Immunologic research · 2025Article
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Somatic mosaicism in genetic errors of immunity.The Journal of allergy and clinical immunology · 2025Review
- MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population.Inflammatory bowel diseases · 2025Article
- Eosinophils in inflammatory bowel disease pathogenesis: an ROS-centric view.Frontiers in allergy · 2025Article
- Challenges in the Management of Inflammatory Bowel Disease in Children: A Narrative Review.Clinical and experimental gastroenterology · 2025Review
- Considerations in Paediatric and Adolescent Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2024Review
- A pilot study of childhood-onset Takayasu arteritis using whole exome sequencing suggests oligogenic inheritance involving classical complement, collagen, and autoinflammatory pathways.Clinical rheumatology · 2024Article
- Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.Clinical and experimental immunology · 2024Article
- Adverse clinical outcomes and immunosuppressive microenvironment of RHO-GTPase activation pattern in hepatocellular carcinoma.Journal of translational medicine · 2024Article
- Genetic Variation Between Small Bowel and Colon-Predominant Crohn's Disease.Cellular and molecular gastroenterology and hepatology · 2024Article
- Single duplex DNA sequencing with CODEC detects mutations with high sensitivity.Nature genetics · 2023Article
- Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice.Human genetics · 2023Review
- Clonal hematopoiesis, somatic mosaicism, and age-associated disease.Physiological reviews · 2023Review
- High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV.Molecular genetics & genomic medicine · 2022Article
- Rare HeterozygousGenes · 2022Review
Corrections and comments
- Erratum issued
Authors and funding
51 authors at 20 institutions in 9 countries.
Eva Gonçalves SerraWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Tobias SchwerdTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Loukas MoutsianasWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Athena CavounidisTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Laura FachalWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0002-7256-9752
Sumeet PandeyTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Jochen KammermeierGreat Ormond Street Hospital, London, UK.
Nicholas M CroftBlizard Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.ORCID http://orcid.org/0000-0002-1519-6435
Carsten PosovszkyUniversitätsklinikum, Ulm, Germany.ORCID http://orcid.org/0000-0002-9487-8812
Astor RodriguesDepartment of Paediatrics, University of Oxford, Oxford, UK.
Richard K RussellRoyal Hospital for Children, Glasgow, UK.ORCID http://orcid.org/0000-0001-7398-4926
Farah BarakatBlizard Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.
Marcus K H AuthAlder Hey Children's Hospital, Liverpool, UK.
Robert HeuschkelAddenbrooke's Hospital, Cambridge, UK.
Matthias ZilbauerAddenbrooke's Hospital, Cambridge, UK.ORCID http://orcid.org/0000-0002-7272-0547
Krzysztof FyderekDepartment of Paediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College, Krakow, Poland.
Christian BraeggerDivision of Gastroenterology and Nutrition and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland.
Simon P TravisTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.ORCID http://orcid.org/0000-0002-2690-4361
Jack SatsangiTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Miles ParkesIBD Research Unit, Department of Gastroenterology, Addenbrooke's Hospital, Cambridge, UK.
Nikhil ThaparGreat Ormond Street Hospital, London, UK.
Helen FerryTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Julie C MatteWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.ORCID http://orcid.org/0000-0001-5642-648X
Kimberly C GilmourGreat Ormond Street Hospital, London, UK.
Andrzej WedrychowiczDepartment of Paediatrics, Gastroenterology and Nutrition, Jagiellonian University Medical College, Krakow, Poland.ORCID http://orcid.org/0000-0003-1448-167X
Peter SullivanDepartment of Paediatrics, University of Oxford, Oxford, UK.
Carmel MooreNIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Jennifer SambrookINTERVAL Coordinating Centre, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Willem OuwehandWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
David RobertsNIHR Blood and Transplant Research Unit in Donor Health and Genomics, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
John DaneshWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Toni A BaeumlerWeatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Tudor A FulgaWeatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.ORCID http://orcid.org/0000-0002-1056-0082
Eli M CarramiWeatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.ORCID http://orcid.org/0000-0002-7770-2065
Ahmed AhmedWeatherall Institute of Molecular Medicine and the Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK.ORCID http://orcid.org/0000-0001-6509-2581
Rachel WilsonTranslational Gastroenterology Unit, University of Oxford, Oxford, UK.
Jeffrey C BarrettWellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Abdul ElkadriDepartment of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
Anne M GriffithsDepartment of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.
COLORS in IBD group investigators
Oxford IBD cohort study investigators
INTERVAL Study
Swiss IBD cohort investigators
UK IBD Genetics Consortium
NIDDK IBD Genetics Consortium
Scott B SnapperDivision of Gastroenterology, Hepatology and Nutrition, Boston Children's Hospital, Boston, MA, USA.
Neil ShahGreat Ormond Street Hospital, London, UK.
Aleixo M MuiseDepartment of Biochemistry and Pediatrics, Faculty of Medicine, University of Toronto, Toronto, ON, Canada.ORCID http://orcid.org/0000-0001-9624-3346
David C WilsonChild Life and Health, University of Edinburgh, Edinburgh, UK.ORCID http://orcid.org/0000-0003-0879-1129
Holm H Uhlig *Translational Gastroenterology Unit, University of Oxford, Oxford, UK. holm.uhlig@ndm.ox.ac.uk.
Carl A Anderson *Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK. carl.anderson@sanger.com.
University of Oxford · GBUniversity of Bern · CHUniversity of Zurich · CHInstitute of Social and Preventive Medicine · CHKantonsspital St. Gallen · CHUniversity of Cambridge · GBLuzerner Kantonsspital · CHCedars-Sinai Medical Center · USUniversity Hospital of Basel · CHUniversity of Pittsburgh · USCabinet Gastroenterology La Source-Beaulieu · CHWellcome Sanger Institute · GBGreat Ormond Street Hospital · GBUniversity Children's Hospital Zurich · CHAddenbrooke's Hospital · GBJohn Radcliffe Hospital · GBKantonsspital Aarau · CHUniversity Hospital of Lausanne · CHHirslanden Klinik Am Rosenberg · CHIcahn School of Medicine at Mount Sinai · US
Funding
STRUCTURE-FUNCTION RELATIONSHIPS IN THE ALIMENTARY TRACTP30DK034854 · NIDDK · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI JONATHAN C KAGAN · 1986 to 2026
$32.4MCOngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI James Richard Goldenring, Izumi Kaji · 2019 to 2026
$14.8MIBD Gene Mapping by Clinical and Population SubsetsU01DK062431 · NIDDK · RUTGERS BIOMEDICAL AND HEALTH SCIENCES · PI Steven R Brant · 2002 to 2026
$10.7MNIDDK IBD Genetics Consortium Genetic Research CenterU01DK062420 · NIDDK · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI DUERR, RICHARD H · 2002 to 2021
$7.8MIdentifying population-specific IBD-associated mutations, genes and pathwaysR01DK123530 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI ITAN, YUVAL · 2019 to 2021
$1.0MDepartment of Health NIHR-RP-R3-12-026Medical Research Council G0800675Medical Research Council MC_UU_00008/7Medical Research Council MC_UU_12010/7Medical Research Council MR/J00314X/1Medical Research Council MR/M00533X/1Medical Research Council MR/S036377/1MRF_ C0482NIDDK NIH HHS P30 DK034854NIDDK NIH HHS R01 DK123530NIDDK NIH HHS RC2 DK118640NIDDK NIH HHS U01 DK062420NIDDK NIH HHS U01 DK062431Wellcome Trust 109965/Z/15/Z
Abstract
Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10
Indexed as
MosaicismAdultAge of OnsetCase-Control StudiesChildChild, PreschoolCohort StudiesExome SequencingFemaleGenes, RecessiveGenetic Predisposition to DiseaseGenetic VariationHumansInfantInfant, NewbornInflammatory Bowel DiseasesCYBB protein, humanNADPH Oxidase 2
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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.