Related Experiment Video
Updated: Jan 19, 2026
Chronic Salmonella Infection Induced Intestinal Fibrosis
Published on: September 22, 2019
Clinical and genomic features of Iranian patients with very early onset IBD
Mahya Haghipanah1, Pejman Rohani2, Meino Rohlfs3
1Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University(TMU), Tehran, Iran.
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.
More Related Videos
09:44Evaluating Therapeutic Interventions in the SHIP-deficient Mouse Model of Crohn Disease-like Ileitis and Fibrosis
Published on: October 14, 2025
10:37Perturbations of Circulating miRNAs in Irritable Bowel Syndrome Detected Using a Multiplexed High-throughput Gene Expression Platform
Published on: November 30, 2016
Related Concept Videos
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the...
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by...
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
01:17Irritable Bowel Syndrome I: Introduction
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...