Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
genetics
inborn errors of immunity
inflammatory bowel disease
pathomechanisms
Journal
Immunological reviews
ISSN: 1600-065X
Titre abrégé: Immunol Rev
Pays: England
ID NLM: 7702118
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
17
09
2018
accepted:
23
09
2018
entrez:
20
12
2018
pubmed:
20
12
2018
medline:
4
12
2019
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 30565237
doi: 10.1111/imr.12726
pmc: PMC7379380
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
162-185Subventions
Organisme : Austrian Science Fund FWF
ID : I 2250
Pays : Austria
Informations de copyright
© 2018 The Authors. Immunological Reviews Published by John Wiley & Sons Ltd.
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