Evidence map›Paper›PMID 35366317›Full record

ArticleJournal of Crohn's & colitis2022

Clinical Phenotypes and Outcomes in Monogenic Versus Non-monogenic Very Early Onset Inflammatory Bowel Disease.

Lauren V Collen, David Y Kim, Michael Field, Ibeawuchi Okoroafor, Gwen Saccocia, Sydney Driscoll Whitcomb, Julia Green, Michelle Dao Dong, Jared Barends, Bridget Carey and 13 more

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Crohn's & colitis, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 2 pooled it
3.5field-weighted citation impact, top 6% of its field
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

26 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.

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  11. [Colonoscopy in infants: procedure and disease spectrum analysis of 184 cases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
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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

23 authors at 5 institutions in 4 countries.

Lauren V CollenDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
David Y KimDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Michael FieldDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Ibeawuchi OkoroaforDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Gwen SaccociaDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Sydney Driscoll WhitcombDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Julia GreenDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Michelle Dao DongDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Jared BarendsDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Bridget CareyDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Madison E WeatherlyDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Regeneron Genetics centre
Shira RockowitzManton centre for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Piotr SlizManton centre for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Enju LiuDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Alal EranComputational Health Informatics Program, Boston Children's Hospital, Boston, MA, USA.
Leslie Grushkin-LernerDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Athos BousvarosDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Aleixo M MuiseSickKids Inflammatory Bowel Disease centre, Research Institute, Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0001-9624-3346
Christoph KleinDepartment of Pediatrics, Dr. von Hauner Children's Hospital, LMU Klinikum, and Gene centre, Ludwig Maximilians Universität München, München,Germany.
Vanessa MitsialisDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Jodie OuahedDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-2011-6209
Scott B SnapperDivision of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Boston Children's Hospital · USBrigham and Women's Hospital · USBen-Gurion University of the Negev · ILLMU Klinikum · DEUniversity of Toronto · CA

Funding

COngenital Diarrhea and Enteropathy (PediCODE) Consortium and BioRepositoryRC2DK118640 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI James Richard Goldenring, Izumi Kaji · 2019 to 2026
$14.8M
TRAINING IN PEDIATRIC GASTROENTEROLOGY &NUTRITIONT32DK007477 · NIDDK · CHILDREN'S HOSPITAL BOSTON · PI Scott B Snapper · 1986 to 2026
$13.3M
Identifying Immune and Epithelial Network Signatures in Very Early Onset Inflammatory Bowel DiseaseRC2DK122532 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI KLEIN, CHRISTOPH, MUISE, ALEIXO M · 2020 to 2024
$9.1M
Role of Interferon lambda signaling in mucosal homeostasis and infantile-onset inflammatory bowel diseaseK08DK122133 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI OUAHED, JODIE · 2020 to 2024
$896k
National Institute of Diabetes and Digestive Kidney Diseases RC2DK118640NIDDK NIH HHS K08 DK122133NIDDK NIH HHS RC2 DK118640NIDDK NIH HHS RC2 DK122532NIDDK NIH HHS T32 DK007477NIH HHS T32 DK007477
6 · The paper itself

Abstract

BACKGROUND AND

aimsOver 80 monogenic causes of very early onset inflammatory bowel disease [VEOIBD] have been identified. Prior reports of the natural history of VEOIBD have not considered monogenic disease status. The objective of this study is to describe clinical phenotypes and outcomes in a large single-centre cohort of patients with VEOIBD and universal access to whole exome sequencing [WES].

methodsPatients receiving IBD care at a single centre were prospectively enrolled in a longitudinal data repository starting in 2012. WES was offered with enrollment. Enrolled patients were filtered by age of diagnosis <6 years to comprise a VEOIBD cohort. Monogenic disease was identified by filtering proband variants for rare, loss-of-function, or missense variants in known VEOIBD genes inherited according to standard Mendelian inheritance patterns.

resultsThis analysis included 216 VEOIBD patients, followed for a median of 5.8 years. Seventeen patients [7.9%] had monogenic disease. Patients with monogenic IBD were younger at diagnosis and were more likely to have Crohn's disease phenotype with higher rates of stricturing and penetrating disease and extraintestinal manifestations. Patients with monogenic disease were also more likely to experience outcomes of intensive care unit [ICU] hospitalisation, gastrostomy tube, total parenteral nutrition use, stunting at 3-year follow-up, haematopoietic stem cell transplant, and death. A total of 41 patients [19.0%] had infantile-onset disease. After controlling for monogenic disease, patients with infantile-onset IBD did not have increased risk for most severity outcomes.

conclusionsMonogenic disease is an important driver of disease severity in VEOIBD. WES is a valuable tool in prognostication and management of VEOIBD.

Indexed as

Crohn DiseaseInflammatory Bowel DiseasesAge of OnsetHumansIntestinesPhenotypedisease courseVery early onset inflammatory bowel diseasewhole exome sequencing

Identifiers

PMID35366317
PMCPMC9455789
OpenAlexW4226021801

What OpenQuestion holds

Textmetadata
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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.