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Open Access Green as soon as Postprint is submitted to ZB.
Clinical and genomic features of Iranian patients with very early onset IBD.
Pediatr. Res., DOI: 10.1038/s41390-025-04575-z (2026)
BACKGROUND: Very early onset inflammatory bowel disease presents a rare condition with an enrichment of monogenic disorders. This cohort study aims to investigate the prevalence of IBD-like monogenic disorders as well as genotypic and phenotypic characteristics in an Iranian cohort of VEO-IBD patients. METHODS: Patients with VEO-IBD diagnosed between September 2019 and May 2023 were evaluated retrospectively. Clinical data were collected, and whole exome sequencing (WES) was performed on patients. Biological therapy was given to 10 patients (52%), and three underwent intestinal surgery. RESULTS: Among the 19 patients, 7 (36%) had Crohn's disease, 3 (15%) had ulcerative colitis, and 9 (47%) had unclassified IBD. Monogenic disorders were identified in 8 patients (42%), including variants in IL10RB, DKC1, FERMT1, GUCY2C, NLRC4, and a susceptibility gene variant in the MEFV gene. We identified a novel heterozygous duplication on chromosome 6 by karyotype and SNP-array analysis but the relevance of the genetic findings remains elusive and further functional testing is required. Four patients were considered for HSCT, and the patient with the MEFV variant responded well to colchicine. CONCLUSIONS: The study revealed that 42% of VEO-IBD patients had underlying monogenic disorders. Early identification of causative mutations is crucial for improving prognosis and treatment strategies. IMPACT: VEO-IBD is a rare condition with a high prevalence of monogenic disorders. Early detection of causal mutations is crucial for improving prognosis and selecting optimal treatment strategies. In our cohort study, eight patients were found to have five known and three novel pathogenic variants in five different genes. We also identified a de novo duplication of the 6q22 region. Allogeneic HSCT provides a curative treatment for IL-10R-deficient patients, while colchicine treatment resulted in sustained remission in a patient with an MEFV mutation. Our study indicates that early genetic diagnosis of immune-related IBD-like monogenic disorders is essential for effective patient management.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Inflammatory-bowel-disease; Copy-number Variations; Wide Association; Activation; Kindlin-1; Diagnosis; Variants; Resource; Children; Protein
ISSN (print) / ISBN
0031-3998
e-ISSN
1530-0447
Journal
Pediatric Research
Publisher
Springer
Publishing Place
Campus, 4 Crinan St, London, N1 9xw, England
Reviewing status
Peer reviewed
Institute(s)
Institute of Translational Genomics (ITG)
Grants
VEO-IBD-Consortium
Dr. von Hauner Children's Hospital
Leona M. and Harry B. Helmsley Charitable Trust
Helmholtz Young Investigator Group funds (Initiative and Networking Fund of the Helmholtz Association)
Hector Foundation
Else Kroner-Fresenius-Stiftung
Collaborative Research Consortium (CRC)
Deutsche Forschungsgemeinschaft (DFG, German Research foundation)
Dr. von Hauner Children's Hospital
Leona M. and Harry B. Helmsley Charitable Trust
Helmholtz Young Investigator Group funds (Initiative and Networking Fund of the Helmholtz Association)
Hector Foundation
Else Kroner-Fresenius-Stiftung
Collaborative Research Consortium (CRC)
Deutsche Forschungsgemeinschaft (DFG, German Research foundation)