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, N. Jeremiah, M.-C. Stolzenberg, L. Chentout, S. Mirshavalad, A. Bouafia, A. Magerus, M. Moncan, S. Jacques, O. Pelle, V. Bondet, D. Duffy, M. Parisot, , 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.
bioRxiv · Apr 27, 2020 · PreprintImmunology