"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behcet's Syndrome and Inflammatory Bowel Disease.

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,

SUBMITTER: Olyha SJ 

PROVIDER: S-EPMC10929603 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature