Article
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.
Annals of the rheumatic diseases - 1 Oct 2022
Kozycki Christina Torres, Kodati Shilpa, Huryn Laryssa, Wang Hongying, Warner Blake M, Jani Priyam, Hammoud Dima, Abu-Asab Mones S, Jittayasothorn Yingyos, Mattapallil Mary J, Tsai Wanxia Li, Ullah Ehsan, Zhou Ping, Tian Xiaoying, Soldatos Ariane, Moutsopoulos Niki, Kao-Hsieh Marie, Heller Theo, Cowen Edward W, Lee Chyi-Chia Richard, Toro Camilo, Kalsi Shelley, Khavandgar Zohreh, Baer Alan, Beach Margaret, Long Priel Debra, Nehrebecky Michele, Rosenzweig Sofia, Romeo Tina, Deuitch Natalie, Brenchley Laurie, Pelayo Eileen, Zein Wadih, Sen Nida, Yang Alexander H, Farley Gary, Sweetser David A, Briere Lauren, Yang Janine, de Oliveira Poswar Fabiano, Schwartz Ida Vanessa D, Silva Alves Tamires, Dusser Perrine, Koné-Paut Isabelle, Touitou Isabelle, Titah Salah Mohamed, van Hagen Petrus Martin, van Wijck Rogier T A, van der Spek Peter J, Yano Hiromi, Benneche Andreas, Apalset Ellen M, Jansson Ragnhild Wivestad, Caspi Rachel R, Kuhns Douglas Byron, Gadina Massimo, Takada Hidetoshi, Ida Hiroaki, Nishikomori Ryuta, Verrecchia Elena, Sangiorgi Eugenio, Manna Raffaele, Brooks Brian P, Sobrin Lucia, Hufnagel Robert B, Beck David, Shao Feng, Ombrello Amanda K, Aksentijevich Ivona, Kastner Daniel L
Abstract excerpt
OBJECTIVES: To test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in ALPK1, is an autoinflammatory disease. METHODS: This cohort study systematically evaluated 27 patients with ROSAH syndrome for inflammatory features and investigated the effect of ALPK1 mutations on immune signalling. Clinical, immunologic and...
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