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

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 inflamm...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Autoinflammatory Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9484401/
https://www.ncbi.nlm.nih.gov/pubmed/35868845
http://dx.doi.org/10.1136/annrheumdis-2022-222629

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