ReviewGastroenterology2014
The diagnostic approach to monogenic very early onset inflammatory bowel disease.
Review in Gastroenterology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04170192 (Multi-center Clinical Study of Cord Blood Stem Cell Transplantation in The Treatment of Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Gene Deficiency), which is not on this map. Cited by 337 papers, 11 of them syntheses that pooled it.
What it found
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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.
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.
Multi-center Clinical Study of Cord Blood Stem Cell Transplantation in The Treatment of Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Gene Deficiency
Who cites it
337 citing papers in PubMed, 11 syntheses or guidelines pooled it, 720 citations in OpenAlex.
- A therapeutic atlas of monogenic inflammatory bowel disease.Journal of Crohn's & colitis · 2026Pooled it
- Artificial Intelligence-based detection of neuropsychiatric lupus: an exploratory meta-analysis of neuroimaging and multimodal biomarker models.Clinical and experimental medicine · 2026Pooled it
- Targeted therapies and their outcomes in monogenic very early onset inflammatory bowel disease: a systematic review.BMC gastroenterology · 2026Pooled it
- Comprehensive evaluation of clinical phenotypes and pathogenic features in late-onset monogenic inflammatory bowel disease: a comparative study with infantile-onset cases.BMC gastroenterology · 2025Pooled it
- Pooled it
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- The clinical, molecular, and therapeutic features of patients with IL10/IL10R deficiency: a systematic review.Clinical and experimental immunology · 2022Pooled 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
- Crohn's-like Enteritis in X-Linked Agammaglobulinemia: A Case Series and Systematic Review.The journal of allergy and clinical immunology. In practice · 2021Pooled it
- Primary Immunodeficiencies Associated With Early-Onset Inflammatory Bowel Disease in Southeast and East Asia.Frontiers in immunology · 2021Pooled it
- Ulcerative Colitis-Diagnostic and Therapeutic Algorithms.Deutsches Arzteblatt international · 2020Pooled it
- Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.Scientific reports · 2021Trial
- Human immunodeficiency virus infection mimicking very early onset inflammatory bowel disease.JPGN reports · 2026Article
- Association of Nutritional Status at Diagnosis with Disease Course in Pediatric Inflammatory Bowel Disease.Nutrients · 2026Article
- Patient-derived intestinal organoids in pediatric inflammatory bowel disease: applications in disease modeling and therapeutic response prediction.Clinical and experimental pediatrics · 2026Article
- Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum.World journal of clinical pediatrics · 2026Review
- Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis.Journal of human immunity · 2026Review
- Ulcerative colitis: from molecular pathophysiology to management and the emerging role of natural and pharmacological drug candidates.Naunyn-Schmiedeberg's archives of pharmacology · 2026Review
- Clinical pearls and pitfalls in inborn errors of immunity: An expert-derived framework for diagnostic pattern recognition.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2026Review
- Clinical and genomic features of Iranian patients with very early onset IBD.Pediatric research · 2026Article
277 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 8 institutions in 6 countries.
Funding
Abstract
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory bowel disease (monogenic IBD). Patients with these disorders often develop symptoms during infancy or early childhood, along with endoscopic or histological features of Crohn's disease, ulcerative colitis, or IBD unclassified. Defects in interleukin-10 signaling have a Mendelian inheritance pattern with complete penetrance of intestinal inflammation. Several genetic defects that disturb intestinal epithelial barrier function or affect innate and adaptive immune function have incomplete penetrance of the IBD-like phenotype. Several of these monogenic conditions do not respond to conventional therapy and are associated with high morbidity and mortality. Due to the broad spectrum of these extremely rare diseases, a correct diagnosis is frequently a challenge and often delayed. In many cases, these diseases cannot be categorized based on standard histological and immunologic features of IBD. Genetic analysis is required to identify the cause of the disorder and offer the patient appropriate treatment options, which include medical therapy, surgery, or allogeneic hematopoietic stem cell transplantation. In addition, diagnosis based on genetic analysis can lead to genetic counseling for family members of patients. We describe key intestinal, extraintestinal, and laboratory features of 50 genetic variants associated with IBD-like intestinal inflammation. In addition, we provide approaches for identifying patients likely to have these disorders. We also discuss classic approaches to identify these variants in patients, starting with phenotypic and functional assessments that lead to analysis of candidate genes. As a complementary approach, we discuss parallel genetic screening using next-generation sequencing followed by functional confirmation of genetic defects.
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What OpenQuestion holds
Registered trials
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.