A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease-Reference-Cited by-同舟云学术

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

Published:2018-10-25 Issue:1 Volume:9 Page:
ISSN:2041-1723
Container-title:Nature Communications
language:en
Short-container-title:Nat Commun

Author:

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

Publisher

Springer Science and Business Media LLC

Subject

General Physics and Astronomy,General Biochemistry, Genetics and Molecular Biology,General Chemistry

Link

http://www.nature.com/articles/s41467-018-06964-x.pdf

Reference56 articles.

1. Song, E. et al. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin. Mol. Allergy 9, 10 (2011).

2. Arnold, D. E. & Heimall, J. R. A review of chronic granulomatous disease. Adv. Ther. 34, 2543–2557 (2017).

3. Segal, B. H., Leto, T. L., Gallin, J. I., Malech, H. L. & Holland, S. M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine 79, 170–200 (2000).

4. Holland, S. M. Chronic granulomatous disease. Clin. Rev. Allergy Immunol. 38, 3–10 (2010).

5. Matute, J. D. et al. A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. Blood 114, 3309–3315 (2009).

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