Germline but macrophage-tropic CYBB mutations in kindreds with X-linked predisposition to tuberculous mycobacterial diseases

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Casanova , Jean-Laurent; Bustamante , Jacinta; Arias , Andres Augusto; Vogt , Guillaume; Picard , Capucine; Blancas Galicia , Lizbeth; Prando , Carolina; Grant , Audrey; Marchal , Christophe; Hubeau , Marjorie; Chapgier , Ariane; De Beaucoudrey , Ludovic; Puel , Anne; Feinberg , Jacqueline; Valinetz , Ethan; Janniere , Lucile; Besse , Caroline; Boland , Anne; Brisseau , Jean-Marie; Blanche , Stephane; Lortholary , Olivier; Fieschi , Claire; Emile , Jean-François; Boisson-Dupuis , Stephanie; Al-Muhsen , Saleh; Woda , Bruce; Newburger , Peter; Condino-Neto , Antonio; Dinauer , Mary C.; Abel , Laurent;
  • Publisher: Nature Publishing Group
  • Related identifiers: doi: 10.1038/ni.1992
  • Subject: Granulocytes | Monocytes | Macrophages | Innate immunity

International audience; Germline mutations in the human CYBB gene, encoding the gp91phox subunit of the phagocyte NADPH oxidase, impair the respiratory burst of phagocytes and result in X-linked chronic granulomatous disease. We report two kindreds in which otherwise he... View more
  • References (35)
    35 references, page 1 of 4

    Casanova, J.L. & Abel, L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol 20, 581-620 (2002).

    Alcais, A., Fieschi, C., Abel, L. & Casanova, J.L. Tuberculosis in children and adults: two distinct genetic diseases. J Exp Med 202, 1617-21 (2005).

    Filipe-Santos, O. et al. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 18, 347-61 (2006).

    Bustamante, J. et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J Med Genet 44, e65 (2007).

    Filipe-Santos, O. et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med 203, 1745-59 (2006).

    Notarangelo, L.D. et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 124, 1161-78 (2009).

    Roos, D. et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis 45, 246-65 (2010).

    Mouy, R., Fischer, A., Vilmer, E., Seger, R. & Griscelli, C. Incidence, severity, and prevention of infections in chronic granulomatous disease. J Pediatr 114, 555-60 (1989).

    Segal, B.H., Leto, T.L., Gallin, J.I., Malech, H.L. & Holland, S.M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79, 170-200 (2000).

    Winkelstein, J.A. et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79, 155-69 (2000).

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