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

por 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
Publicado 2014

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

por 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
Publicado 2014

JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies

por Sanchez, Gina A. Montealegre, Reinhardt, Adam, Ramsey, Suzanne, Wittkowski, Helmut, Hashkes, Philip J., Berkun, Yackov, Schalm, Susanne, Murias, Sara, Dare, Jason A., Brown, Diane, Stone, Deborah L., Gao, Ling, Klausmeier, Thomas, Foell, Dirk, de Jesus, Adriana A., Chapelle, Dawn C., Kim, Hanna, Dill, Samantha, Colbert, Robert A., Failla, Laura, Kost, Bahar, O’Brien, Michelle, Reynolds, James C., Folio, Les R., Calvo, Katherine R., Paul, Scott M., Weir, Nargues, Brofferio, Alessandra, Soldatos, Ariane, Biancotto, Angelique, Cowen, Edward W., Digiovanna, John J., Gadina, Massimo, Lipton, Andrew J., Hadigan, Colleen, Holland, Steven M., Fontana, Joseph, Alawad, Ahmad S., Brown, Rebecca J., Rother, Kristina I., Heller, Theo, Brooks, Kristina M., Kumar, Parag, Brooks, Stephen R., Waldman, Meryl, Singh, Harsharan K., Nickeleit, Volker, Silk, Maria, Prakash, Apurva, Janes, Jonathan M., Ozen, Seza, Wakim, Paul G., Brogan, Paul A., Macias, William L., Goldbach-Mansky, Raphaela
Publicado 2018