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

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 healthy male adults show X-linked recessive Mendelian su...

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Veröffentlicht in:	Nature immunology 2011-01
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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