{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Olyha SJ"],"funding":["G. Harold and Leila Y. Mathers Charitable Foundation","Kenneth Rainin Foundation","Leona M. and Harry B. Helmsley Charitable Trust","Yale University","NIDDK NIH HHS","National Institute of Diabetes and Digestive and Kidney Diseases","NIAID NIH HHS","National Institutes of Health","NIAMS NIH HHS","NIH HHS","Canadian Institutes of Health Research","CIHR"],"pagination":["44"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10929603"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["44(2)"],"pubmed_abstract":["Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed \"deficiency in ELF4, X-linked\" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, "],"journal":["Journal of clinical immunology"],"pubmed_title":["\"Deficiency in ELF4, X-Linked\": a Monogenic Disease Entity Resembling Behcet's Syndrome and Inflammatory Bowel Disease."],"pmcid":["PMC10929603"],"funding_grant_id":["S10 OD030363","R01 AI150913","RC2 DK118640","U19 AI089992","KRA000114","T32 AR007107"],"pubmed_authors":["Lucena Soto JM","Warner N","Dalm VASH","Tyler PM","Sheikha H","Alam F","Rodriguez-Martinez A","Muise AM","Catanzaro J","Rothermel H","Lakhani SA","van Rossum AMC","Bucklin ML","Neth O","Hoppenreijs EPAH","Jones KM","Moran CJ","DiGiacomo DV","Fiedler K","Olbrich P","O'Connor SK","Uthaya Kumar DB","Lucas CL","Montgomery RR","van der Made CI","Hoischen A","Kribis M","Konnikova L","Du H","Olyha SJ"],"additional_accession":[]},"is_claimable":false,"name":"\"Deficiency in ELF4, X-Linked\": a Monogenic Disease Entity Resembling Behcet's Syndrome and Inflammatory Bowel Disease.","description":"Defining monogenic drivers of autoinflammatory syndromes elucidates mechanisms of disease in patients with these inborn errors of immunity and can facilitate targeted therapeutic interventions. Here, we describe a cohort of patients with a Behçet's- and inflammatory bowel disease (IBD)-like disorder termed \"deficiency in ELF4, X-linked\" (DEX) affecting males with loss-of-function variants in the ELF4 transcription factor gene located on the X chromosome. An international cohort of fourteen DEX patients was assessed to identify unifying clinical manifestations and diagnostic criteria as well as collate findings informing therapeutic responses. DEX patients exhibit a heterogeneous clinical phenotype including weight loss, oral and gastrointestinal aphthous ulcers, fevers, skin inflammation, ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Jan","modification":"2026-06-01T17:54:38.593Z","creation":"2025-04-06T01:15:34.493Z"},"accession":"S-EPMC10929603","cross_references":{"pubmed":["38231408"],"doi":["10.1007/s10875-023-01610-8"]}}