ArticleJournal of Crohn's & colitis2018
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.
Erratum issuedAbstract readMulticenter Study
In one paragraph
Article in Journal of Crohn's & colitis, 2018. 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 55 papers, 1 of them a synthesis that pooled it.
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55citing papers in PubMed, 1 pooled it
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review of Monogenic Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022Pooled it
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Clinical and genomic features of Iranian patients with very early onset IBD.Pediatric research · 2026Article
- MYO5B deficiency is associated with altered MUC13 localization and DMBT1 accumulation in intestinal epithelial cells.American journal of physiology. Gastrointestinal and liver physiology · 2026Article
- The genetic landscape of congenital diarrheas and very early onset inflammatory bowel disease in the Middle East.JPGN reports · 2026Article
- Reducing Unmet Needs in Hidradenitis Suppurativa by Including the Hair Follicle Among an Arsenal of Targets.Experimental dermatology · 2026Review
- Membranous nephropathy secondary to very early-onset inflammatory bowel disease in a 3-year-old boy: case report.CEN case reports · 2026Article
- Fecal microbial and metabolic signatures in children with very early onset inflammatory bowel disease.NPJ biofilms and microbiomes · 2025Article
- Mastering genetics for your clinic: A step-by-step guide.The Journal of allergy and clinical immunology · 2025Review
- Monogenic inflammatory bowel disease: An unfolding enigma.World journal of clinical pediatrics · 2025Review
- Advances in Understanding Intestinal Homeostasis: Lessons from Inflammatory Bowel Disease and Monogenic Intestinal Disorder Pathogenesis.International journal of molecular sciences · 2025Review
- Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.Children (Basel, Switzerland) · 2025Article
- MYO5B and the Polygenic Landscape of Very Early-Onset Inflammatory Bowel Disease in an Ethnically Diverse Population.Inflammatory bowel diseases · 2025Article
- Case Report: Severe kidney involvement in a case of very early onset inflammatory bowel disease.Frontiers in immunology · 2025Article
- Myosin Vb Traffics P-Glycoprotein to the Apical Membrane of Intestinal Epithelial Cells.Gastroenterology · 2025Article
- High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.Pediatric research · 2025Article
- Disease phenotypic and outcome of very-early onset inflammatory bowel disease in Asian children: an understudied population.Frontiers in pediatrics · 2025Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.International journal of molecular sciences · 2024Article
- Pathogenesis and precision medicine for predicting response in inflammatory bowel disease: advances and future directions.eGastroenterology · 2024Review
Corrections and comments
- Erratum issued
Authors and funding
69 authors.
Fabienne Charbit-HenrionINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Marianna ParlatoINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Sylvain HaneinINSERM, UMR 1163 Translational Genetic, and Imagine Institute, Paris, France.
Rémi Duclaux-LorasINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Jan NowakINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Bernadette BegueINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Sabine RakotobeINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Julie BruneauUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Cécile FourrageUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Olivier AlibeuUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Frédéric Rieux-LaucatUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Eva LévyUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Marie-Claude StolzenbergUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Fabienne MazerollesUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Sylvain LatourUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Christelle LenoirUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Alain FischerUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Capucine PicardUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Marina AloiGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Jorge Amil DiasGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Mongi Ben HarizGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Anne BourrierDepartment of Gastroenterology, Hôpital St Antoine, Assistance Publique-Hôpitaux de Paris, Paris, France.
Christian BreuerGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Anne BretonGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Jiri BronskyGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Stephan BuderusGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Mara CananziGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Stéphanie CoopmanGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Clara CrémilleuxGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Alain DabadieGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Clémentine Dumant-ForestGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Odul Egritas GurkanGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Alexandre FabreGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Aude FischerGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Marta German DiazGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Yago Gonzalez-LamaInflammatory Bowel Disease Unit, Hospital Universitario Puerta de Hierro-Majadahonda, Madrid, Spain.
Olivier GouletUniversité Paris Descartes-Sorbonne Paris Cité, Paris, France.
Graziella GuarisoGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Neslihan GurcanGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Matjaz HomanGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Jean-Pierre HugotGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Eric JeziorskiGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Evi KaranikaGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Alain LachauxGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Peter LewindonGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Rosa LimaGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Fernando MagroGastroenterology Department, Hospital de São João, Institute of Pharmacology and Therapeutics Faculty of Medicine and MedInUP - Centre for Drug Discovery and Innovative Medicines, University of Porto, Porto, Portugal.
Janos MajorGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Georgia MalamutINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Emmanuel MasGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Istvan MattyusGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Luisa M MearinGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Jan MelekGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Victor Manuel Navas-LopezGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Anders PaerregaardGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Cecile PelatanGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Bénédicte PigneurINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Isabel Pinto PaisGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Julie RebeuhGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Claudio RomanoGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Nadia SialaGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Caterina StrisciuglioGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Michela Tempia-CalieraGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Patrick TounianGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Dan TurnerGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Vaidotas UrbonasGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Stéphanie WillotGENIUS Group [GENetically ImmUne-mediated enteropathieS] from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition [ESPGHAN].
Frank M RuemmeleINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Nadine Cerf-BensussanINSERM, UMR1163, Laboratory of Intestinal Immunity, and Imagine Institute, Paris, France.
Funding
European Research Council 339407
Abstract
BACKGROUND AND
aimsAn expanding number of monogenic defects have been identified as causative of severe forms of very early-onset inflammatory bowel diseases [VEO-IBD]. The present study aimed at defining how next-generation sequencing [NGS] methods can be used to improve identification of known molecular diagnosis and to adapt treatment.
methodsA total of 207 children were recruited in 45 paediatric centres through an international collaborative network [ESPGHAN GENIUS working group] with a clinical presentation of severe VEO-IBD [n = 185] or an anamnesis suggestive of a monogenic disorder [n = 22]. Patients were divided at inclusion into three phenotypic subsets: predominantly small bowel inflammation, colitis with perianal lesions, and colitis only. Methods to obtain molecular diagnosis included functional tests followed by specific Sanger sequencing, custom-made targeted NGS, and in selected cases whole exome sequencing [WES] of parents-child trios. Genetic findings were validated clinically and/or functionally.
resultsMolecular diagnosis was achieved in 66/207 children [32%]: 61% with small bowel inflammation, 39% with colitis and perianal lesions, and 18% with colitis only. Targeted NGS pinpointed gene mutations causative of atypical presentations, and identified large exonic copy number variations previously missed by WES.
conclusionsOur results lead us to propose an optimised diagnostic strategy to identify known monogenic causes of severe IBD.
Indexed as
High-Throughput Nucleotide SequencingAdolescentAge of OnsetChildChild, PreschoolCohort StudiesFemaleHumansInfantInflammatory Bowel DiseasesMalePredictive Value of TestsGenetics and molecular epidemiologymonogenic disorderspaediatricsTNGSVEO-IBD
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