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

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...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2018
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/57f493162206468b9eb899348fd4d5e3
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:57f493162206468b9eb899348fd4d5e3
record_format	dspace
spelling	oai:doaj.org-article:57f493162206468b9eb899348fd4d5e32021-12-02T16:56:57ZA homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease10.1038/s41467-018-06964-x2041-1723https://doaj.org/article/57f493162206468b9eb899348fd4d5e32018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06964-xhttps://doaj.org/toc/2041-1723Mutations 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.Gudny A. ArnadottirGudmundur L. NorddahlSteinunn GudmundsdottirArna B. AgustsdottirSnaevar SigurdssonBrynjar O. JenssonKristbjorg BjarnadottirFannar TheodorsStefania BenonisdottirErna V. IvarsdottirAsmundur OddssonRagnar P. KristjanssonGerald SulemKristjan F. AlexanderssonThorhildur JuliusdottirKjartan R. GudmundssonJona SaemundsdottirAdalbjorg JonasdottirAslaug JonasdottirAsgeir SigurdssonPaolo ManzanilloSigurjon A. GudjonssonGudmundur A. ThorissonOlafur Th. MagnussonGisli MassonKjartan B. OrvarHilma HolmSigurdur BjornssonReynir ArngrimssonDaniel F. GudbjartssonUnnur ThorsteinsdottirIngileif JonsdottirAsgeir HaraldssonPatrick SulemKari StefanssonNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q 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 A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
description	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.
format	article
author	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
author_facet	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
author_sort	Gudny A. Arnadottir
title	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
title_short	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
title_full	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
title_fullStr	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
title_full_unstemmed	A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
title_sort	homozygous loss-of-function mutation leading to cybc1 deficiency causes chronic granulomatous disease
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/57f493162206468b9eb899348fd4d5e3
work_keys_str_mv	AT gudnyaarnadottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gudmundurlnorddahl ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT steinunngudmundsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT arnabagustsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT snaevarsigurdsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT brynjarojensson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kristbjorgbjarnadottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT fannartheodors ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT stefaniabenonisdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ernavivarsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asmunduroddsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ragnarpkristjansson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT geraldsulem ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kristjanfalexandersson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT thorhildurjuliusdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kjartanrgudmundsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT jonasaemundsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT adalbjorgjonasdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT aslaugjonasdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asgeirsigurdsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT paolomanzanillo ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT sigurjonagudjonsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gudmundurathorisson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT olafurthmagnusson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gislimasson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kjartanborvar ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT hilmaholm ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT sigurdurbjornsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT reynirarngrimsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT danielfgudbjartsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT unnurthorsteinsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ingileifjonsdottir ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asgeirharaldsson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT patricksulem ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT karistefansson ahomozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gudnyaarnadottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gudmundurlnorddahl homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT steinunngudmundsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT arnabagustsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT snaevarsigurdsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT brynjarojensson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kristbjorgbjarnadottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT fannartheodors homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT stefaniabenonisdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ernavivarsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asmunduroddsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ragnarpkristjansson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT geraldsulem homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kristjanfalexandersson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT thorhildurjuliusdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kjartanrgudmundsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT jonasaemundsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT adalbjorgjonasdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT aslaugjonasdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asgeirsigurdsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT paolomanzanillo homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT sigurjonagudjonsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gudmundurathorisson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT olafurthmagnusson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT gislimasson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT kjartanborvar homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT hilmaholm homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT sigurdurbjornsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT reynirarngrimsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT danielfgudbjartsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT unnurthorsteinsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT ingileifjonsdottir homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT asgeirharaldsson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT patricksulem homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease AT karistefansson homozygouslossoffunctionmutationleadingtocybc1deficiencycauseschronicgranulomatousdisease
_version_	1718382681005228032

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

Ejemplares similares