Novel pathogenic variant in the deficiency in ELF4, X-linked (DEX): case report and literature review

This study aims to increase clinicians' understanding of DEX. In cases where young male patients present with recurrent fever, oral or mucosal ulcers, or repeated infections, DEX should be strongly considered. Early implementation of gastrointestinal endoscopy and genetic testing is recommended to enable a more precise and timely diagnosis, laying a solid foundation for informed treatment decisions.