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Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). Blood Cells Mol Dis

Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. <>
Blood Cells Molecules and Diseases (Impact Factor: 2.33). 02/2010; 44(4):291-9. DOI: 10.1016/j.bcmd.2010.01.009
Source: PubMed

ABSTRACT Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pathogen killing by phagocytic leukocytes. Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox. This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations.

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Available from: Marie-José Stasia, Aug 28, 2015
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    • "Most commonly encountered is the X-linked form of the disease which accounts for around two thirds of the cases and is responsible for the increased incidence of the disease in male children. The remaining one third of the cases is inherited in an autosomal recessive way like that in our patient who had a CYBA gene mutation that was previously found in other patients [3]. CDG normally manifests within the early months or years of life [1]. "
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    ABSTRACT: Chronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by severe bacterial and fungal infections. Invasive aspergillosis and other rare mold diseases are the leading causes of mortality. We report one case of CGD revealed by retropharyngeal abscess. On evolution, the patient developed an invasive aspergillosis resistant to treatment.
    Fetal and Pediatric Pathology 01/2012; 32(4). DOI:10.3109/15513815.2012.721479 · 0.40 Impact Factor
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    • "Additional information about these mutations and about CGD in general can also be found in recent reviews [2] [3] [4] [5] [6] and in the cited literature. An update article with the mutations causing the autosomal recessive forms of CGD has recently been published separately [7]. Table 3 contains the known polymorphisms in CYBB. "
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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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