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
(22 July, 2022)
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
