PFAPA: a single phenotype with genetic heterogeneity

por Lapidus, Sivia K, Chitkara, Puja, Kim, Peter W, Aksentijevich, Ivona, Remmers, Elaine F, Feder, Henry, Barham, Beverly K, Jones, Anne, Ward, Michael M, Barron, Karyl S, Kastner, Daniel L, Stojanov, Silvia
Publicado 2012

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome

por Zhou, Qing, Wang, Hongying, Schwartz, Daniella M., Stoffels, Monique, Park, Yong Hwan, Zhang, Yuan, Yang, Dan, Demirkaya, Erkan, Takeuchi, Masaki, Tsai, Wanxia Li, Lyons, Jonathan J., Yu, Xiaomin, Ouyang, Claudia, Chen, Celeste, Chin, David T., Zaal, Kristien, Chandrasekharappa, Settara C., Hanson, Eric P., Yu, Zhen, Mullikin, James C., Hasni, Sarfaraz A., Wertz, Ingrid, Ombrello, Amanda K., Stone, Deborah L., Hoffmann, Patrycja, Jones, Anne, Barham, Beverly K., Leavis, Helen L., van Royen-Kerkof, Annet, Sibley, Cailin, Batu, Ezgi D., Gül, Ahmet, Siegel, Richard M., Boehm, Manfred, Milner, Joshua D., Ozen, Seza, Gadina, Massimo, Chae, JaeJin, Laxer, Ronald M., Kastner, Daniel L., Aksentijevich, Ivona
Publicado 2015

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

por Lalaoui, Najoua, Boyden, Steven E., Oda, Hirotsugu, Wood, Geryl M., Stone, Deborah L., Chau, Diep, Liu, Lin, Stoffels, Monique, Kratina, Tobias, Lawlor, Kate E., Zaal, Kristien J. M., Hoffmann, Patrycja M., Etemadi, Nima, Shield-Artin, Kristy, Biben, Christine, Tsai, Wanxia Li, Blake, Mary D., Kuehn, Hye Sun, Yang, Dan, Anderton, Holly, Silke, Natasha, Wachsmuth, Laurens, Zheng, Lixin, Moura, Natalia Sampaio, Beck, David B., Gutierrez-Cruz, Gustavo, Ombrello, Amanda K., Pinto-Patarroyo, Gineth P., Kueh, Andrew J., Herold, Marco J., Hall, Cathrine, Wang, Hongying, Chae, Jae Jin, Dmitrieva, Natalia I., McKenzie, Mark, Light, Amanda, Barham, Beverly K., Jones, Anne, Romeo, Tina M., Zhou, Qing, Aksentijevich, Ivona, Mullikin, James C., Gross, Andrew J., Shum, Anthony K., Hawkins, Edwin D., Masters, Seth L., Lenardo, Michael J., Boehm, Manfred, Rosenzweig, Sergio D., Pasparakis, Manolis, Voss, Anne K., Gadina, Massimo, Kastner, Daniel L., Silke, John
Publicado 2019