Article
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.
American journal of hematology - 1 Jan 2017
Wolach Baruch, Gavrieli Ronit, de Boer Martin, van Leeuwen Karin, Berger-Achituv Sivan, Stauber Tal, Ben Ari Josef, Rottem Menachem, Schlesinger Yechiel, Grisaru-Soen Galia, Abuzaitoun Omar, Marcus Nufar, Zion Garty Ben, Broides Arnon, Levy Jakov, Stepansky Polina, Etzioni Amos, Somech Raz, Roos Dirk
Abstract excerpt
Chronic granulomatous disease (CGD) is an innate immunodeficiency with a genetic defect of the nicotinamide adenosine dinucleotide phosphate, reduced, oxidase components. This leads to decreased reactive oxygen species (ROS) production, which renders patients susceptible to life-threatening infections. Over the course of 30 years, we diagnosed CGD in 84 patients from 61 families using functional, molecular, and...
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