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Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)

  1. Author:
    Roos, D.
    Kuhns, D. B.
    Maddalena, A.
    Bustamante, J.
    Kannengiesser, C.
    de Boer, M.
    van Leeuwen, K.
    Koker, M. Y.
    Wolach, B.
    Roesler, J.
    Malech, H. L.
    Holland, S. M.
    Gallin, J. I.
    Stasia, M. J.

  2. Author Address

    [Roos, Dirk; de Boer, Martin; van Leeuwen, Karin] Sanquin Res, NL-1066 CX Amsterdam, Netherlands. [Roos, Dirk; de Boer, Martin; van Leeuwen, Karin] Univ Amsterdam, Acad Med Ctr, Karl Landsteiner Lab, NL-1105 AZ Amsterdam, Netherlands. [Kuhns, Douglas B.] NCI, SAIC Frederick, Frederick, MD 21701 USA. [Maddalena, Anne] GeneDx, Gaithersburg, MD USA. [Bustamante, Jacinta] INSERM, U550, Lab Human Genet Infect Dis, Paris, France. [Bustamante, Jacinta] Univ Paris 05, Necker Med Sch, Paris, France. [Kannengiesser, Caroline] Hop Bichat Claude Bernard, Serv Biochim Hormonale & Genet, F-75877 Paris 18, France. [Kannengiesser, Caroline] Univ Paris 07, U773, Paris, France. [Koker, M. Yavuz] Erciyes Univ, Immunol Lab, Kayseri, Turkey. [Koker, M. Yavuz] Erciyes Univ, Cappadocia Transplant Ctr, Kayseri, Turkey. [Wolach, Baruch] Meir Med Ctr, Dept Pediat, Kefar Sava, Israel. [Wolach, Baruch] Meir Med Ctr, Lab Leukocyte Funct, Kefar Sava, Israel. [Roesler, Joachim] Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany. [Malech, Harry L.; Gallin, John I.] NIAID, Host Def Lab, NIH, Bethesda, MD 20892 USA. [Holland, Steven M.] Natl Inst Clin Infect Dis, Lab Clin Infect Dis, NIH, Bethesda, MD USA. [Stasia, Marie-Jose] Univ Grenoble 1, CNRS, UMR 5525,Chron Granulomatous Dis Diag & Res Ctr, Univ Hosp Grenoble,Therex TIMC Imag, Grenoble, France.;Roos, D, Sanquin Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands.;d.roos@sanquin.nl
    1. Year: 2010
    2. Date: Apr
  2. Journal: Blood Cells Molecules and Diseases
    1. 44
    2. 4
    3. Pages: 291-299
  4. Type of Article: Article
  5. ISSN: 1079-9796
  1. 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. (c) 2010 Elsevier Inc. All rights reserved.

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External Sources

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  2. DOI: 10.1016/j.bcmd.2010.01.009
  3. View record in Web of Science®
  4. WOS: 000276541000017

Library Notes

  1. Fiscal Year: FY2009-2010
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