Nature Communications (Oct 2018)
A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
- 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
Affiliations
- Gudny A. Arnadottir
- deCODE Genetics/Amgen, Inc.
- Gudmundur L. Norddahl
- deCODE Genetics/Amgen, Inc.
- Steinunn Gudmundsdottir
- deCODE Genetics/Amgen, Inc.
- Arna B. Agustsdottir
- deCODE Genetics/Amgen, Inc.
- Snaevar Sigurdsson
- deCODE Genetics/Amgen, Inc.
- Brynjar O. Jensson
- deCODE Genetics/Amgen, Inc.
- Kristbjorg Bjarnadottir
- deCODE Genetics/Amgen, Inc.
- Fannar Theodors
- deCODE Genetics/Amgen, Inc.
- Stefania Benonisdottir
- deCODE Genetics/Amgen, Inc.
- Erna V. Ivarsdottir
- deCODE Genetics/Amgen, Inc.
- Asmundur Oddsson
- deCODE Genetics/Amgen, Inc.
- Ragnar P. Kristjansson
- deCODE Genetics/Amgen, Inc.
- Gerald Sulem
- deCODE Genetics/Amgen, Inc.
- Kristjan F. Alexandersson
- deCODE Genetics/Amgen, Inc.
- Thorhildur Juliusdottir
- deCODE Genetics/Amgen, Inc.
- Kjartan R. Gudmundsson
- deCODE Genetics/Amgen, Inc.
- Jona Saemundsdottir
- deCODE Genetics/Amgen, Inc.
- Adalbjorg Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Aslaug Jonasdottir
- deCODE Genetics/Amgen, Inc.
- Asgeir Sigurdsson
- deCODE Genetics/Amgen, Inc.
- Paolo Manzanillo
- deCODE Genetics/Amgen, Inc.
- Sigurjon A. Gudjonsson
- deCODE Genetics/Amgen, Inc.
- Gudmundur A. Thorisson
- deCODE Genetics/Amgen, Inc.
- Olafur Th. Magnusson
- deCODE Genetics/Amgen, Inc.
- Gisli Masson
- deCODE Genetics/Amgen, Inc.
- Kjartan B. Orvar
- Department of Internal Medicine, Landspitali University Hospital
- Hilma Holm
- deCODE Genetics/Amgen, Inc.
- Sigurdur Bjornsson
- Department of Internal Medicine, Landspitali University Hospital
- Reynir Arngrimsson
- Department of Genetics and Molecular Medicine, Landspitali University Hospital
- Daniel F. Gudbjartsson
- deCODE Genetics/Amgen, Inc.
- Unnur Thorsteinsdottir
- deCODE Genetics/Amgen, Inc.
- Ingileif Jonsdottir
- deCODE Genetics/Amgen, Inc.
- Asgeir Haraldsson
- Faculty of Medicine, University of Iceland
- Patrick Sulem
- deCODE Genetics/Amgen, Inc.
- Kari Stefansson
- deCODE Genetics/Amgen, Inc.
- DOI
- https://doi.org/10.1038/s41467-018-06964-x
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 9
Abstract
Mutations in genes encoding NAPDH oxidase subunits are known to be causative for the primary immunodeficiency chronic granulomatous disease (CGD). Here, the authors identify CYBC1 mutations in patients with CGD and show that CYBC1 is important for formation of the NADPH complex and respiratory burst.
