Evidence map›Paper›PMID 41547964›Full record

ArticlePediatric research2026

Clinical and genomic features of Iranian patients with very early onset IBD.

Mahya Haghipanah, Pejman Rohani, Meino Rohlfs, Shabnam Shahrokh, Fatemeh Farahmand, Maryam Sotoudeh Anvari, Maximilian Witzel, Shokoufeh Ahmadipour, Mohammadhassan Sohouli, Seyed Mohsen Dehghani and 4 more

Abstract read
PubMed Publisher
In one paragraph

Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Review
  2. Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

14 authors.

Mahya HaghipanahDepartment of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University(TMU), Tehran, Iran.
Pejman RohaniPediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center(CMC), Tehran University of Medical Sciences, Tehran, Iran.
Meino RohlfsDr. von Hauner Children's Hospital, Department of Pediatrics University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany.
Shabnam ShahrokhBasic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases(RIGLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Fatemeh FarahmandPediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center(CMC), Tehran University of Medical Sciences, Tehran, Iran.
Maryam Sotoudeh AnvariPediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center(CMC), Tehran University of Medical Sciences, Tehran, Iran.
Maximilian WitzelDr. von Hauner Children's Hospital, Department of Pediatrics University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany.
Shokoufeh AhmadipourDepartment of Gastroenterology, Lorestan University of Medical Science(LUMS), Khorramabad, Iran.
Mohammadhassan SohouliPediatric Gastroenterology and Hepatology Research Center, Pediatrics Centre of Excellence, Children's Medical Center(CMC), Tehran University of Medical Sciences, Tehran, Iran.
Seyed Mohsen DehghaniDepartment of Pediatric Gastroenterology and Hepatology, Shiraz University of Medical Sciences (SUMS), Shiraz, Iran.
Christoph KleinDr. von Hauner Children's Hospital, Department of Pediatrics University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany.
Daniel KotlarzDr. von Hauner Children's Hospital, Department of Pediatrics University Hospital, Ludwig-Maximilians-Universität (LMU) Munich, Munich, Germany. daniel.kotlarz@med.uni-muenchen.de.
Bahram M SoltaniDepartment of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares University(TMU), Tehran, Iran. soltanib@modares.ac.ir.
Mehdi TotonchiBasic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases(RIGLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran. m.totonch@royaninstitute.org.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVery 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.

methodsPatients 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.

resultsAmong 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.

conclusionsThe 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.

Identifiers

PMID41547964

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.