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

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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.

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Acknowledgments

We thank the CGD Research Trust, London, UK, for the financial support. LM thanks B. Tóth (Debrecen) for the helpful contribution to this work. ACN thanks Edgar Borges de Oliveira Jr, PhD, for the excellent work, and Fundação de Amparo a Pesquisa do Estado de São Paulo for the financial support (FAPESP, Grant 2005/59568). This work was supported in part by the Slovenian Research Agency (Grant L3-0624). CK thanks Prof. M.A. Gougerot-Pocidalo for performing the Western blot analysis of NADPH

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