An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

by Canna, Scott W., de Jesus, Adriana Almeida, Gouni, Sushanth, Brooks, Stephen R., Marrero, Bernadette, Liu, Yin, DiMattia, Michael A., Zaal, Kristien J.M., Montealegre Sanchez, Gina A., Kim, Hanna, Chapelle, Dawn, Plass, Nicole, Huang, Yan, Villarino, Alejandro V., Biancotto, Angelique, Fleisher, Thomas A., Duncan, Joseph A., O’Shea, John J, Benseler, Susanne, Grom, Alexei, Deng, Zuoming, Laxer, Ronald M, Goldbach-Mansky, Raphaela
Published 2014

A de novo nonsense mutation in the tyrosine kinase lyn in a patient with an early onset autoinflammatory phenotype

by De Jesus, Adriana Almeida, Montealegre, Gina, Liu, Yin, Marrero, Bernadette, Kuehn, Hyesun, Calvo, Katherine, Rosenzweig, Sergio, Fleisher, Thomas, Lee, Richard Chyi-Chia, Brundidge, April, Chapelle, Dawn, Huang, Yan, Brooks, Stephen, Moir, Susan, Meffre, Eric, Merchant, Melinda, Deng, Zuoming, Goldbach-Mansky, Raphaela
Published 2014