Eighty-eight variants highlight the role of T cell regulation and airway remodeling in asthma pathogenesis

par Thorunn A. Olafsdottir, Fannar Theodors, Kristbjorg Bjarnadottir, Unnur Steina Bjornsdottir, Arna B. Agustsdottir, Olafur A. Stefansson, Erna V. Ivarsdottir, Jon K. Sigurdsson, Stefania Benonisdottir, Gudmundur I. Eyjolfsson, David Gislason, Thorarinn Gislason, Steinunn Guðmundsdóttir, Arnaldur Gylfason, Bjarni V. Halldorsson, Gisli H. Halldorsson, Thorhildur Juliusdottir, Anna M. Kristinsdottir, Dora Ludviksdottir, Bjorn R. Ludviksson, Gisli Masson, Kristjan Norland, Pall T. Onundarson, Isleifur Olafsson, Olof Sigurdardottir, Lilja Stefansdottir, Gardar Sveinbjornsson, Vinicius Tragante, Daniel F. Gudbjartsson, Gudmar Thorleifsson, Patrick Sulem, Unnur Thorsteinsdottir, Gudmundur L. Norddahl, Ingileif Jonsdottir, Kari Stefansson
Publié 2020

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

par Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Gudmundsdottir, Arna B. Agustsdottir, Snaevar Sigurdsson, Brynjar O. Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V. Ivarsdottir, Asmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, Jona Saemundsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Paolo Manzanillo, Sigurjon A. Gudjonsson, Gudmundur A. Thorisson, Olafur Th. Magnusson, Gisli Masson, Kjartan B. Orvar, Hilma Holm, Sigurdur Bjornsson, Reynir Arngrimsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Asgeir Haraldsson, Patrick Sulem, Kari Stefansson
Publié 2018