ImmunologybioRxivPreprint
Heterozygous RELA mutations cause early-onset systemic lupus erythematosus by hijacking the NF-κB pathway towards transcriptional activation of type-I Interferon genes
L. Barnabei, H. Lamrini, M. Castela…·F. Rieux-Laucat
This study identifies heterozygous RELA mutations in early-onset SLE patients, showing they drive type-I interferon gene expression through NF-κB pathway hijacking.
DOI 10.1101/2020.04.27.046102