Article
Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients.
Clinical immunology (Orlando, Fla.) - 1 Oct 2008
Wolach Baruch, Gavrieli Ronit, de Boer Martin, Gottesman Giora, Ben-Ari Josef, Rottem Menachem, Schlesinger Yechiel, Grisaru-Soen Galia, Etzioni Amos, Roos Dirk
Abstract excerpt
Chronic granulomatous disease (CGD) is an innate immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. In the course of 21 years, 38 Israeli CGD patients were diagnosed with 17 gene mutations, seven of which were new. Clinical, functional, and molecular studies were acc...
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