{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bolton C"],"funding":["German Research Foundation","Broad Institute Klarman Cell Observatory","Leona M and Harry B Helmsley Charitable Trust","Howard Hughes Medical Institute","Charite Universitatsmedizin Berlin","NIDDK Division of Diabetes Endocrinology and Metabolic Diseases","CIHR","Canada Excellence Research Chairs","Manton Foundation","NIDDK NIH HHS","Medical Research Council","NIHR Oxford Biomedical Research Centre","National Institute for Health Research (NIHR)","Kennedy Trust","Wellcome Trust"],"pagination":["859-876"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7616885"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["162(3)"],"pubmed_abstract":["Background & aims
Monogenic forms of inflammatory bowel disease (IBD) illustrate the essential roles of individual genes in pathways and networks safeguarding immune tolerance and gut homeostasis.Methods
To build a taxonomy model, we assessed 165 disorders. Genes were prioritized based on penetrance of IBD and disease phenotypes were integrated with multi-omics datasets. Monogenic IBD genes were classified by (1) overlapping syndromic features, (2) response to hematopoietic stem cell transplantation, (3) bulk RNA-sequencing of 32 tissues, (4) single-cell RNA-sequencing of >50 cell subsets from the intestine of healthy individuals and patients with IBD (pediatric and adult), and (5) proteomes of 43 immune subsets. The model was validated by addition of newly identified monog"],"journal":["Gastroenterology"],"pubmed_title":["An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease."],"pmcid":["PMC7616885"],"funding_grant_id":["MR/T001917/1","KENN151613","211276","RC2 DK118640","211276/Z/18/Z","RC2 DK122532","1946380","KENN202101","ACF-2020-18-006"],"pubmed_authors":["Haller W","Snapper S","Uhlig HH","Macchi M","Elmentaite R","Bagalopal K","McGovern DPB","Jostins L","McCullagh J","Cavounidis A","Anderson CA","Smillie CS","Cho J","Shouval DS","Schadt E","Capitani M","Pires E","Peters L","Teichmann S","Muise AM","Wei G","Siegmund B","Xavier R","Pandey S","Arkwright PD","Kammermeier J","Klein C","Bolton C","James KR","Regev A","Zilbauer M","Travis SPL","Koletzko S","Aschenbrenner D","Weidinger C","Argmann C"],"additional_accession":[]},"is_claimable":false,"name":"An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease.","description":"Background & aims
Monogenic forms of inflammatory bowel disease (IBD) illustrate the essential roles of individual genes in pathways and networks safeguarding immune tolerance and gut homeostasis.Methods
To build a taxonomy model, we assessed 165 disorders. Genes were prioritized based on penetrance of IBD and disease phenotypes were integrated with multi-omics datasets. Monogenic IBD genes were classified by (1) overlapping syndromic features, (2) response to hematopoietic stem cell transplantation, (3) bulk RNA-sequencing of 32 tissues, (4) single-cell RNA-sequencing of >50 cell subsets from the intestine of healthy individuals and patients with IBD (pediatric and adult), and (5) proteomes of 43 immune subsets. The model was validated by addition of newly identified monog","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-06-01T17:45:12.6Z","creation":"2025-04-04T12:25:32.885Z"},"accession":"S-EPMC7616885","cross_references":{"pubmed":["34780721"],"doi":["10.1053/j.gastro.2021.11.014"]}}