Case report
Open access
Sep 2026
A truncating ELF4 variant in a pediatric patient with autoinflammatory disease and cell type-specific immune alterations
Introduction ELF4 is an ETS family transcription factor involved in immune regulation, including antiviral responses and inflammatory signaling. Germline loss-of-function variants in ELF4 cause deficiency in ELF4, X-linked (DEX), a disorder characterized by recurrent mucocutaneous inflammation and variable immune abnor...
Qian-Lu Zhang, Ya-Tang Lei, Li-Na Zhou et al.
· Frontiers in Immunology · 0 citations