Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome
Adriana A. de Jesus, Guibin Chen, Dan Yang, Tomáš Brdička, Natasha M. Ruth, David A. Bennin, Dita Cebecauerová, Hana Malcová, Helen Freeman, Neil Martin, Karel Švojgr, Murray H. Passo, Farzana Bhuyan, Sara Alehashemi, Andre T. Rastegar, , Raphaela T. Goldbach‐Mansky
This study identifies de novo LYN variants causing constitutive Lyn kinase activation, leading to neutrophilic vasculitis and liver fibrosis, and shows therapeutic response to Src kinase inhibitors.
Nature Communications · Mar 17, 2023Peer-reviewedGenetic & Genomic Medicine