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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome

by Kodati, Shilpa, Mattapallil, Mary J, Tian, Xiaoying, Soldatos, Ariane, Kao-Hsieh, Marie, Cowen, Edward W, Kalsi, Shelley, Khavandgar, Zohreh, Rosenzweig, Sofia, Romeo, Tina, Sen, Nida, Dusser, Perrine, Touitou, Isabelle, Titah, Salah Mohamed, van der Spek, Peter J, Apalset, Ellen M, Nishikomori, Ryuta, Sangiorgi, Eugenio, Manna, Raffaele, Brooks, Brian P, Sobrin, Lucia, Beck, David, Aksentijevich, Ivona, Kastner, Daniel L, Azamian, Mahshid S., Bademci, Guney, Balasubramanyam, Ashok, Bamshad, Michael, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Berg-Rood, Beverly, Bonner, Devon, Brokamp, Elly, Brown, Gabrielle, Carey, John, Chang, TaChen Peter, Chao, Hsiao-Tuan, Coakley, Terra R., Coggins, Matthew, Cooper, Cynthia M., Craigen, William J., Davis, Joie, Dipple, Katrina, Doss, Argenia L., Emrick, Lisa T., Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Glass, Ian, Golden-Grant, Katie, Grajewski, Alana, Don Hadley, Sihoun Hahn, High, Frances, Holm, Ingrid A., Huang, Alden, Jarvik, Gail P., Jarvik, Jeffrey, Kennedy, Jennifer, Kobren, Shilpa N., Lam, Byron, Lanza, Ian R., LeBlanc, Kimberly, Lewis, Richard A., Loo, Sandra K., MacRae, Calum A., Mak, Bryan C., McCauley, Jacob, McGee, Elisabeth, Mirzaa, Ghayda, Nakano-Okuno, Mariko, Orengo, James P., Carl Pallais, J., Pusey, Barbara N., Raskind, Wendy, Rosenfeld, Jill A., Ruzhnikov, Maura, Sacco, Ralph, Schedl, Timothy, Schoch, Kelly, Shashi, Vandana, Sisco, Kathy, Ben Solomon, Rebecca C. Spillmann, Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Tran, Alyssa A., Vanderver, Adeline, Viskochil, Dave, Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Weisz-Hubshman, Monika, Perry, Katherine Wesseling, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Zuchner, Stephan
Published in Annals of the rheumatic diseases (01.10.2022)

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