Article
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Blood cells, molecules & diseases - 1 Dec 2021
Roos Dirk, van Leeuwen Karin, Hsu Amy P, Priel Debra Long, Begtrup Amber, Brandon Rhonda, Rawat Amit, Vignesh Pandiarajan, Madkaikar Manesha, Stasia Marie José, Bakri Faris Ghalib, de Boer Martin, Roesler Joachim, Köker Nezihe, Köker M Yavuz, Jakobsen Marianne, Bustamante Jacinta, Garcia-Morato Maria Bravo, Shephard Juan Luis Valdivieso, Cagdas Deniz, Tezcan Ilhan, Sherkat Roya, Mortaz Esmaeil, Fayezi Abbas, Shahrooei Mohammad, Wolach Baruch, Blancas-Galicia Lizbeth, Kanegane Hirokazu, Kawai Toshinao, Condino-Neto Antonio, Vihinen Mauno, Zerbe Christa S, Holland Steven M, Malech Harry L, Gallin John I, Kuhns Douglas B
Abstract excerpt
Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. CGD patients suffer from severe, recurrent bacterial and fungal infections. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is subsequently metabolized to hydrogen peroxide and other reactive oxygen species...
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