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

• Published in: Nature Communications
• Main Authors: Arnadottir, Gudny, Norðdahl, Guðmundur L., Gudmundsdottir, Steinunn, Ágústsdóttir, Arna B., Sigurðsson, Snævar, Jensson, Brynjar Örn, Bjarnadóttir, Kristbjörg, Theodórs, Fannar, Benonisdottir, Stefania, Ívarsdóttir, Erna V., Oddsson, Asmundur, Kristjánsson, Ragnar P., Sulem, Gerald, Alexandersson, Kristján F., Júlíusdóttir, Þórhildur, Guðmundsson, Kjartan R., Sæmundsdóttir, Jóna, Jónasdóttir, Aðalbjörg, Jónasdóttir, Áslaug, Sigurðsson, Ásgeir, Manzanillo, Paolo, Guðjónsson, Sigurjón Axel, Thorisson, Gudmundur A., Magnússon, Ólafur Þ., Másson, Gísli, Örvar, Kjartan B., Holm, Hilma, Björnsson, Sigurður, Arngrimsson, Reynir, Gudbjartsson, Daniel, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Ásgeir, sulem, patrick, Stefansson, Kari
• Other Authors: Faculty of Medicine (UI), Læknadeild (HÍ), School of Engineering and Natural Sciences (UI), Verkfræði- og náttúruvísindasvið, Heilbrigðisvísindasvið (HÍ), School of Health Sciences (UI), Háskóli Íslands (HÍ), University of Iceland (UI)
• Format: Article in Journal/Newspaper
• Language: English
• Published: Springer Science and Business Media LLC 2018
• Subjects: Antimicrobial responses; Disease genetics; Immunological deficiency syndromes; Rare variants; Ónæmisfræði; Erfðafræði; Two Brothers; Iceland
• Online Access: https://hdl.handle.net/20.500.11815/1386; https://doi.org/10.1038/s41467-018-06964-x

Publisher's version (útgefin grein) Publisher’s note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous...