Evidence map›Paper›PMID 35613698›Full record

ArticleClinical immunology (Orlando, Fla.)2022

Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease.

Judith Kelsen, Noor Dawany, Maire Conrad, Trusha Patel, Marcella Devoto, Kelly Maurer, Kathleen E Sullivan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical immunology (Orlando, Fla.), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

7 authors.

Judith KelsenDivision of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Noor DawanyDepartment of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Maire ConradDivision of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Trusha PatelDivision of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Marcella DevotoDivision of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Kelly MaurerThe Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA.
Kathleen E SullivanThe Division of Allergy Immunology, Department of Pediatrics, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA 19104, USA. Electronic address: sullivank@chop.edu.

Funding

Integration of genomics and transcriptomics to investigate biological pathways in very early onset IBDR01DK127044 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI KELSEN, JUDITH RACHEL · 2021 to 2025
$3.4M
An integrative approach to understanding the genetic basis of very early onset inflammatory bowel diseaseR01DK111843 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI KELSEN, JUDITH RACHEL · 2018 to 2020
$772k
NIDDK NIH HHS R01 DK111843NIDDK NIH HHS R01 DK127044
6 · The paper itself

Abstract

backgroundInflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Treatment for patients who have a monogenic cause of their IBD, often the youngest children, known as very early onset IBD (VEO-IBD), can be different from standard treatment for polygenic cases. Yet, ascertainment of these patients is difficult.

methodsWe analyzed cases of VEO-IBD to understand the breadth of monogenic etiology and to identify clinical, laboratory, and flow cytometric correlates of this subpopulation.

resultsGenetic causes of very early onset inflammatory bowel disease are highly diverse ranging from pure epithelial defects to classic T cell defects. Flow cytometry, other than testing for chronic granulomatous disease, has a low sensitivity for monogenic etiologies. Poor growth was a clinical feature associated with monogenic causality.

conclusionsGenetic testing is, at this moment, the most robust method for the identification of monogenic cases of very early onset IBD.

Indexed as

Inflammatory Bowel DiseasesAge of OnsetChildGenetic TestingHumansIntestinesFlow cytometryInborn error of immunityInflammatory bowel diseaseMonogenicPrimary immunodeficiency

Identifiers

PMID35613698
PMCPMC11972058

What OpenQuestion holds

Textmetadata
LicenceTDM
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.