Evidence map›Paper›PMID 30565237›Full record

ReviewImmunological reviews2019

Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.

Julia Pazmandi, Artem Kalinichenko, Rico Chandra Ardy, Kaan Boztug

Abstract readReview
In one paragraph

Review in Immunological reviews, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
50citing papers in PubMed, 1 pooled it
–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

50 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. A Systematic Review of Monogenic Inflammatory Bowel Disease.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2022
    Pooled it
  2. Trial
  3. Article
  4. Article
  5. Article
  6. Review
  7. Novel pathogenicFrontiers in immunology · 2026
    Article
  8. Article
  9. Article
  10. Review
  11. Review
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. 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

4 authors.

Julia PazmandiLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.ORCID 0000-0003-3411-9598
Artem KalinichenkoLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.ORCID 0000-0002-7020-7256
Rico Chandra ArdyLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.ORCID 0000-0003-4975-2177
Kaan BoztugLudwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.ORCID 0000-0001-8387-9185

Funding

Austrian Science Fund FWF I 2250
6 · The paper itself

Abstract

Rare, monogenetic diseases present unique models to dissect gene functions and biological pathways, concomitantly enhancing our understanding of the etiology of complex (and often more common) traits. Although inflammatory bowel disease (IBD) is a generally prototypic complex disease, it can also manifest in an early-onset, monogenic fashion, often following Mendelian modes of inheritance. Recent advances in genomic technologies have spurred the identification of genetic defects underlying rare, very early-onset IBD (VEO-IBD) as a disease subgroup driven by strong genetic influence, pinpointing key players in the delicate homeostasis of the immune system in the gut and illustrating the intimate relationships between bowel inflammation, systemic immune dysregulation, and primary immunodeficiency with increased susceptibility to infections. As for other human diseases, it is likely that adult-onset diseases may represent complex diseases integrating the effects of host genetic susceptibility and environmental triggers. Comparison of adult-onset IBD and VEO-IBD thus provides beautiful models to investigate the relationship between monogenic and multifactorial/polygenic diseases. This review discusses the present and novel findings regarding monogenic IBD as well as key questions and future directions of IBD research.

Indexed as

HomeostasisAnimalsGene-Environment InteractionHumansImmunityInflammationInflammatory Bowel DiseasesPhenotypegeneticsinborn errors of immunityinflammatory bowel diseasepathomechanisms

Identifiers

PMID30565237
PMCPMC7379380

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.