Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Transcriptional and Biochemical Function
C. N. Gruber, J. Calis, S. Buta, G. Evrony, J. C. Martin, S. Uhl, R. Caron, L. Jarchin, D. Dunkin, R. Phelps, B. D. Webb, J. Saland, M. Merad, J. Orange, E. M. Mace, , D. Bogunovic
This study identifies a JAK1 mutation causing autoinflammation and shows its unique transcriptional and functional effects through single-cell analysis and clinical treatment.
bioRxiv · Oct 17, 2019Immunology