Article
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Nature immunology - 1 Mar 2011
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, Jannière Lucile, Besse Céline, Boland Anne, Brisseau Jean-Marie, Blanche Stéphane, Lortholary Olivier, Fieschi Claire, Emile Jean-François, Boisson-Dupuis Stéphanie, Al-Muhsen Saleh, Woda Bruce, Newburger Peter E, Condino-Neto Antonio, Dinauer Mary C, Abel Laurent, Casanova Jean-Laurent
Abstract excerpt
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...
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