Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2010 Oct 15;45(3):246-65.
doi: 10.1016/j.bcmd.2010.07.012. Epub 2010 Aug 21.

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos  1 , Douglas B Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto, Gigliola Di Matteo, Jianxin He, Harry R Hill, Steven M Holland, Caroline Kannengiesser, M Yavuz Köker, Irina Kondratenko, Karin van Leeuwen, Harry L Malech, László Marodi, Hiroyuki Nunoi, Marie-José Stasia, Anna Maria Ventura, Carl T Witwer, Baruch Wolach, John I Gallin
Affiliations
Review

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Dirk Roos et al. Blood Cells Mol Dis. .

Abstract

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.

PubMed Disclaimer

References

    1. Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, Cross AR. Hematologically important mutations: X-linked chronic granulomatous disease (second update) Blood Cells Mol. Dis. 2001;27:16–26. - PubMed
    1. Roos D, Kuijpers TW, Curnutte JT. Chronic granulomatous disease. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. 2nd edition. New York: Oxford University Press; 2007. pp. 525–549.
    1. Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol. 2008;30:209–235. - PubMed
    1. Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, Rossi P, Gattorno M, Rabusin M, Azzari C, Dellepiane RM, Pietrogrande MC, Trizzino A, Di Bartolomeo P, Martino S, Carpino L, Cossu F, Locatelli F, Maccario R, Pierani P, Putti MC, Stabile A, Notarangelo LD, Ugazio AG, Plebani A, De Mattia D. Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study. Clin. Immunol. 2008;126:155–164. - PubMed
    1. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A, Goldblatt D, Parker L, Cant AJ. Chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin. Exp. Immunol. 2008;152:211–218. - PMC - PubMed

Publication types

MeSH terms