biostudies-literatureOlyha SJG. Harold and Leila Y. Mathers Charitable FoundationKenneth Rainin FoundationLeona M. and Harry B. Helmsley Charitable TrustYale UniversityNIDDK NIH HHSNational Institute of Diabetes and Digestive and Kidney DiseasesNIAID NIH HHSNational Institutes of HealthNIAMS NIH HHSNIH HHSCanadian Institutes of Health ResearchCIHR44https://www.ebi.ac.uk/biostudies/studies/S-EPMC10929603biostudies-literatureUnknown44(2)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 of clinical immunology"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behcet's Syndrome and Inflammatory Bowel Disease.PMC10929603S10 OD030363R01 AI150913RC2 DK118640U19 AI089992KRA000114T32 AR007107Lucena Soto JMWarner NDalm VASHTyler PMSheikha HAlam FRodriguez-Martinez AMuise AMCatanzaro JRothermel HLakhani SAvan Rossum AMCBucklin MLNeth OHoppenreijs EPAHJones KMMoran CJDiGiacomo DVFiedler KOlbrich PO'Connor SKUthaya Kumar DBLucas CLMontgomery RRvan der Made CIHoischen AKribis MKonnikova LDu HOlyha SJfalse"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behcet's Syndrome and Inflammatory Bowel Disease.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, 2024-01-01T00:00:00Z2024 Jan2026-06-01T17:54:38.593Z2025-04-06T01:15:34.493ZS-EPMC109296033823140810.1007/s10875-023-01610-8