{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kammermeier J"],"funding":["Great Ormond Street Hospital Childrens Charity","Medical Research Council","National Institute for Health Research (NIHR)","Biotechnology and Biological Sciences Research Council","UCL Institute of Child Health","The British Council"],"pagination":["60-69"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5885808"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["11(1)"],"pubmed_abstract":["<h4>Objectives</h4>Inflammatory bowel disease [IBD] presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of 2 years and establish phenotypic features associated with underlying monogenicity.<h4>Methods</h4>Phenotype data of 62 children with disease onset before the age of 2 years presenting over the past 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing.<h4>Results</h4>In all, 62 patients [55% male] were identified. The median disease onset was 3 months of ag"],"journal":["Journal of Crohn's & colitis"],"pubmed_title":["Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years."],"pmcid":["PMC5885808"],"funding_grant_id":["NF-SI-0513-10046","216377911","V1296","BB/M020991/1","NF-SI-0513-10008","G0801843"],"pubmed_authors":["Chadokufa S","Godwin H","Shah N","Acton N","James C","Beales PL","Uhlig HH","Pescarin M","Huggett B","Bacchelli C","Sider S","Kammermeier J","Reeve K","Kiparissi F","Drury S","Dziubak R","Gasparetto M","Sebire NJ","Cernat E","Gilmour K","Noble-Jamieson G","Elawad M"],"additional_accession":[]},"is_claimable":false,"name":"Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.","description":"<h4>Objectives</h4>Inflammatory bowel disease [IBD] presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of 2 years and establish phenotypic features associated with underlying monogenicity.<h4>Methods</h4>Phenotype data of 62 children with disease onset before the age of 2 years presenting over the past 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing.<h4>Results</h4>In all, 62 patients [55% male] were identified. The median disease onset was 3 months of ag","dates":{"release":"2017-01-01T00:00:00Z","publication":"2017 Jan","modification":"2025-05-31T22:32:04.34Z","creation":"2025-05-31T22:32:04.34Z"},"accession":"S-EPMC5885808","cross_references":{"pubmed":["27302973"],"doi":["10.1093/ecco-jcc/jjw118"]}}