Sam J Olyha, Shannon K O'Connor, Marat Kribis, Molly L Bucklin, Dinesh Babu Uthaya Kumar, Paul M Tyler, Faiad Alam, Kate M Jones, Hassan Sheikha, Liza Konnikova, Saquib A Lakhani, Ruth R Montgomery, Jason Catanzaro, Hongqiang Du, Daniel V DiGiacomo, Holly Rothermel, Christopher J Moran, Karoline Fiedler, Neil Warner, Esther P A H Hoppenreijs, Caspar I van der Made, Alexander Hoischen, Peter Olbrich, Olaf Neth, Alejandro Rodríguez-Martínez, José Manuel Lucena Soto, Annemarie M C van Rossum, Virgil A S H Dalm, Aleixo M Muise, Carrie L Lucas
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...
January 17, 2024: Journal of Clinical Immunology