Observational studyClinical and translational gastroenterology2020
Genetic Sequencing of Pediatric Patients Identifies Mutations in Monogenic Inflammatory Bowel Disease Genes that Translate to Distinct Clinical Phenotypes.
Observational study in Clinical and translational gastroenterology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Red flags to suspect inborn errors of immunity in patients with autoimmune diseasesBiomedica : revista del Instituto Nacional de Salud · 2024Pooled it
- A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.Journal of clinical immunology · 2026Article
- 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
- Asian-Pacific perspectives on the management of very early-onset inflammatory bowel disease.Intestinal research · 2025Review
- Phenome-wide association study of monogenic inflammatory bowel disease genes in diverse biobanks identifies population-specific and shared Goldilocks alleles: implications for Precision Medicine.Journal of Crohn's & colitis · 2025Article
- NOD2 and Crohn's Disease Clinical Practice: From Epidemiology to Diagnosis and Therapy, Rewired.Inflammatory bowel diseases · 2025Review
- Identification of a Novel NLRP12 Frameshift Mutation (Val730GlyfsHuman mutation · 2024Article
- Supervised Machine Learning Classifies Inflammatory Bowel Disease Patients by Subtype Using Whole Exome Sequencing Data.Journal of Crohn's & colitis · 2023Article
- Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.Inflammatory bowel diseases · 2023Article
- NOD2 in Crohn's Disease-Unfinished Business.Journal of Crohn's & colitis · 2023Article
- Evidence of a genetically driven metabolomic signature in actively inflamed Crohn's disease.Scientific reports · 2022Article
- Role of TRIM22 in ulcerative colitis and its underlying mechanisms.Molecular medicine reports · 2022Article
- Deleterious Genetic Variation Across the NOD Signaling Pathway Is Associated With Reduced NFKB Signaling Transcription and Upregulation of Alternative Inflammatory Transcripts in Pediatric Inflammatory Bowel Disease.Inflammatory bowel diseases · 2022Article
- Identification of hub biomarkers and immune cell infiltration in polymyositis and dermatomyositis.Aging · 2022Article
- Tripartite motif family proteins in inflammatory bowel disease: Mechanisms and potential for interventions.Cell proliferation · 2022Review
- Intestinal strictures in Crohn's disease: a 2021 update.Therapeutic advances in gastroenterology · 2022Review
- Ileal Transcriptomic Analysis in Paediatric Crohn's Disease Reveals IL17- and NOD-signalling Expression Signatures in Treatment-naïve Patients and Identifies Epithelial Cells Driving Differentially Expressed Genes.Journal of Crohn's & colitis · 2021Article
- Molecular Genetic Architecture of Monogenic Pediatric IBD Differs from Complex Pediatric and Adult IBD.Journal of personalized medicine · 2020Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesMonogenic inflammatory bowel disease (IBD) comprises rare Mendelian causes of gut inflammation, often presenting in infants with severe and atypical disease. This study aimed to identify clinically relevant variants within 68 monogenic IBD genes in an unselected pediatric IBD cohort.
methodsWhole exome sequencing was performed on patients with pediatric-onset disease. Variants fulfilling the American College of Medical Genetics criteria as "pathogenic" or "likely pathogenic" were assessed against phenotype at diagnosis and follow-up. Individual patient variants were assessed and processed to generate a per-gene, per-individual, deleteriousness score.
resultsFour hundred one patients were included, and the median age of disease-onset was 11.92 years. In total, 11.5% of patients harbored a monogenic variant. TRIM22-related disease was implicated in 5 patients. A pathogenic mutation in the Wiskott-Aldrich syndrome (WAS) gene was confirmed in 2 male children with severe pancolonic inflammation and primary sclerosing cholangitis. In total, 7.3% of patients with Crohn's disease had apparent autosomal recessive, monogenic NOD2-related disease. Compared with non-NOD2 Crohn's disease, these patients had a marked stricturing phenotype (odds ratio 11.52, significant after correction for disease location) and had undergone significantly more intestinal resections (odds ratio 10.75). Variants in ADA, FERMT1, and LRBA did not meet the criteria for monogenic disease in any patients; however, case-control analysis of mutation burden significantly implicated these genes in disease etiology. DISCUSSION: Routine whole exome sequencing in pediatric patients with IBD results in a precise molecular diagnosis for a subset of patients with IBD, providing the opportunity to personalize therapy. NOD2 status informs risk of stricturing disease requiring surgery, allowing clinicians to direct prognosis and intervention.
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