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    Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

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    Authors
    Bustamante, Jacinta
    Arias, Andres A.
    Vogt, Guillaume
    Picard, Capucine
    Galicia, Lizbeth Blancas
    Prando, Carolina
    Grant, Audrey V.
    Marchal, Christophe C.
    Hubeau, Marjorie
    Chapgier, Ariane
    de Beaucoudrey, Ludovic
    Puel, Anne
    Feinberg, Jacqueline
    Valinetz, Ethan
    Janniere, Lucile
    Besse, Celine
    Boland, Anne
    Brisseau, Jean-Marie
    Blanche, Stephane
    Lortholary, Olivier
    Fieschi, Claire
    Emile, Jean-Francois
    Boisson-Dupuis, Stephanie
    Al-Muhsen, Saleh
    Woda, Bruce A.
    Newburger, Peter E.
    Condino-Neto, Antonio
    Dinauer, Mary C.
    Abel, Laurent
    Casanova, Jean-Laurent
    Show allShow less
    UMass Chan Affiliations
    Department of Pathology
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2011-03-01
    Keywords
    Animals
    CHO Cells
    Cricetinae
    Cricetulus
    *Genes, X-Linked
    *Genetic Predisposition to Disease
    Humans
    Macrophages
    Male
    Membrane Glycoproteins
    Mutation
    NADPH Oxidase
    Tuberculosis
    Bacterial Infections and Mycoses
    Hematology
    Oncology
    Pediatrics
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    Link to Full Text
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3097900/pdf/nihms292368.pdf
    Abstract
    Germline mutations in CYBB, the human gene encoding the gp91(phox) subunit of the phagocyte NADPH oxidase, impair the respiratory burst of all types of phagocytes and result in X-linked chronic granulomatous disease (CGD). We report here two kindreds in which otherwise healthy male adults developed X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD) syndromes. These patients had previously unknown mutations in CYBB that resulted in an impaired respiratory burst in monocyte-derived macrophages but not in monocytes or granulocytes. The macrophage-specific functional consequences of the germline mutation resulted from cell-specific impairment in the assembly of the NADPH oxidase. This 'experiment of nature' indicates that CYBB is associated with MSMD and demonstrates that the respiratory burst in human macrophages is a crucial mechanism for protective immunity to tuberculous mycobacteria.
    Source
    Nat Immunol. 2011 Mar;12(3):213-21. Epub 2011 Jan 30. Link to article on publisher's website
    DOI
    10.1038/ni.1992
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43332
    PubMed ID
    21278736
    Related Resources
    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1038/ni.1992
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