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
Christina Torres Kozycki, Shilpa Kodati, Laryssa Huryn, Hongying Wang, Blake M Warner, Priyam Jani, Dima Hammoud, Mones S Abu-Asab, Yingyos Jittayasothorn, Mary J Mattapallil, Wanxia Li Tsai, Ehsan Ullah, Ping Zhou, Xiaoying Tian, Ariane Soldatos, Niki Moutsopoulos, Marie Kao-Hsieh, Theo Heller, Edward W Cowen, Chyi-Chia Richard Lee, Camilo Toro, Shelley Kalsi, Zohreh Khavandgar, Alan Baer, Margaret Beach, Debra Long Priel, Michele Nehrebecky, Sofia Rosenzweig, Tina Romeo, Natalie Deuitch, Laurie Brenchley, Eileen Pelayo, Wadih Zein, Nida Sen, Alexander H Yang, Gary Farley, David A Sweetser, Lauren Briere, Janine Yang, Fabiano de Oliveira Poswar, Ida Vanessa D Schwartz, Tamires Silva Alves, Perrine Dusser, Isabelle Koné-Paut, Isabelle Touitou, Salah Mohamed Titah, Petrus Martin van Hagen, Rogier T A van Wijck, Peter J van der Spek, Hiromi Yano, Andreas Benneche, Ellen M Apalset, Ragnhild Wivestad Jansson, Rachel R Caspi, Douglas Byron Kuhns, Massimo Gadina, Hidetoshi Takada, Hiroaki Ida, Ryuta Nishikomori, Elena Verrecchia, Eugenio Sangiorgi, Raffaele Manna, Brian P Brooks, Lucia Sobrin, Robert B Hufnagel, David Beck, Feng Shao, Amanda K Ombrello, Ivona Aksentijevich, Daniel L Kastner
Annals of the Rheumatic Diseases Oct 2022, 81 (10) 1453-1464; DOI: 10.1136/annrheumdis-2022-222629
