Novel loss-of-function intronic mutation in ELF4 is associated with intestinal autoinflammation. Chunyang Tian
Mucosal Immunol. 2025 Sep 24:S1933-0219(25)00097-2. doi: 10.1016/j.mucimm.2025.09.007. Online ahead of print. ABSTRACT Monogenic errors of immunity can present with inflammatory bowel disease (IBD)-like enteropathy. We describe an adolescent with IBD- and Behçet’s-like phenotype, resulting from an intronic, loss of function mutation (c.248-7G > A) in ELF4, an X-linked transcription factor executing multiple biological functions. The … Read more