Skip NavigationSkip to Content
Return Return to Search Results

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

  1. Author:
    Roos, D.
    Kuhns, D. B.
    Maddalena, A.
    Roesler, J.
    Lopez, J. A.
    Ariga, T.
    Avcin, T.
    de Boer, M.
    Bustamante, J.
    Condino-Neto, A.
    Di Matteo, G.
    He, J. X.
    Hill, H. R.
    Holland, S. M.
    Kannengiesser, C.
    Koker, M. Y.
    Kondratenko, I.
    van Leeuwen, K.
    Malech, H. L.
    Marodi, L.
    Nunoi, H.
    Stasia, M. J.
    Ventura, A. M.
    Witwer, C. T.
    Wolach, B.
    Gallin, J. I.

  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, Landsteiner Lab, NL-1066 CX Amsterdam, Netherlands. [Kuhns, Douglas B.] SAIC Frederick Inc, NCI Frederick, Frederick, MD USA. [Maddalena, Anne] GeneDx, Gaithersburg, MD USA. [Roesler, Joachim] Univ Hosp Carl Gustav Carus, Dept Pediat, Dresden, Germany. [Alvaro Lopez, Juan] Univ Antioquia, Sch Microbiol, Medellin, Colombia. [Ariga, Tadashi] Hokkaido Univ, Grad Sch Med, Dept Pediat, Sapporo, Hokkaido, Japan. [Avcin, Tadej] Univ Childrens Hosp, Dept Allergol Rheumatol & Clin Immunol, Ljubljana, Slovenia. [Bustamante, Jacinta] INSERM, U550, Lab Human Genet Infect Dis, Paris, France. [Bustamante, Jacinta] Univ Paris 05, Necker Med Sch, Paris, France. [Condino-Neto, Antonio] Univ Sao Paulo, Inst Biomed Sci, Dept Immunol, Sao Paulo, Brazil. [Di Matteo, Gigliola] Univ Roma Tor Vergata, Dept Publ Hlth & Cellular Biol, Rome, Italy. [He, Jianxin] Capital Med Univ, Beijing Childrens Hosp, Pediat Res Inst, Lung Funct Lab, Beijing, Peoples R China. [Hill, Harry R.; Witwer, Carl T.] Univ Utah, Dept Pathol, Salt Lake City, UT USA. [Hill, Harry R.; Witwer, Carl T.] Univ Utah, Dept Pediat, Salt Lake City, UT USA. [Hill, Harry R.; Witwer, Carl T.] Univ Utah, Dept Med, Salt Lake City, UT USA. [Hill, Harry R.; Witwer, Carl T.] ARUP Inst Clin & Expt Pathol, Salt Lake City, UT USA. [Holland, Steven M.] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA. [Kannengiesser, Caroline] Univ Paris 07, INSERM, Biomed Res Ctr Bichat Beaujon, F-75018 Paris, France. [Kannengiesser, Caroline] Bichat Claude Bernard Hosp, AP HP, Hormonal Biochem & Genet Serv, F-75018 Paris, France. [Koker, M. Yavuz] Erciyes Univ, Immunol Lab, Kayseri, Turkey. [Koker, M. Yavuz] Erciyes Univ, Cappadocia Transplant Ctr, Kayseri, Turkey. [Kondratenko, Irina] Russian Childrens Clin Hosp, Dept Clin Immunol, Moscow, Russia. [Malech, Harry L.; Gallin, John I.] NIAID, Host Def Lab, Bethesda, MD 20892 USA. [Marodi, Laszlo] Univ Debrecen, Med & Hlth Sci Ctr, Dept Infectiol & Pediat Immunol, Debrecen, Hungary. [Nunoi, Hiroyuki] Miyazaki Univ, Fac Med, Div Pediat, Dept Reprod & Dev Med, Miyazaki, Japan. [Stasia, Marie-Jose] Univ J Fourrier, CNRS, Univ Hosp Grenoble,Therex TIMC Imag UMR 5525, Chron Granulomatous Dis Diag & Res Ctr, Grenoble, France. [Ventura, Anna Maria] Univ Bari, Dept Biomed & Dev Age, Bari, Italy. [Wolach, Baruch] Meir Med Ctr, Dept Pediat, Kefar Sava, Israel. [Wolach, Baruch] Meir Med Ctr, Lab Leukocyte Funct, Kefar Sava, Israel.;Roos, D, Sanquin Res, Plesmanlaan 125, NL-1066 CX Amsterdam, Netherlands.;d.roos@sanquin.nl HMALECH@niaid.nih.gov
    1. Year: 2010
    2. Date: Oct
  2. Journal: Blood Cells Molecules and Diseases
    1. 45
    2. 3
    3. Pages: 246-265
  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 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. (C) 2010 Elsevier Inc. All rights reserved.

    See More

  1. Keywords:

External Sources

  1. View Full Text
  2. DOI: 10.1016/j.bcmd.2010.07.012
  3. View record in Web of Science®
  4. WOS: 000282406600014

Library Notes

  1. Fiscal Year: FY2010-2011
NCI at Frederick

You are leaving a government website.

This external link provides additional information that is consistent with the intended purpose of this site. The government cannot attest to the accuracy of a non-federal site.

Linking to a non-federal site does not constitute an endorsement by this institution or any of its employees of the sponsors or the information and products presented on the site. You will be subject to the destination site's privacy policy when you follow the link.

ContinueCancel