Article
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Blood cells, molecules & diseases - 1 Sept 2021
Roos Dirk, van Leeuwen Karin, Hsu Amy P, Priel Debra Long, Begtrup Amber, Brandon Rhonda, Stasia Marie José, Bakri Faris Ghalib, Köker Nezihe, Köker M Yavuz, Madkaika Manisha, de Boer Martin, Garcia-Morato Maria Bravo, Shephard Juan Luis Valdivieso, Roesler Joachim, Kanegane Hirokazu, Kawai Toshinao, Di Matteo Gigliola, Shahrooei Mohammad, Bustamante Jacinta, Rawat Amit, Vignesh Pandiarajan, Mortaz Esmaeil, Fayezi Abbas, Cagdas Deniz, Tezcan Ilhan, Kitcharoensakkul Maleewan, Dinauer Mary C, Meyts Isabelle, Wolach Baruch, Condino-Neto Antonio, 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 bacterial and fungal infections. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide and subsequently formed other reactive oxygen species (ROS) are instrumental in killing phagocytosed micro-organisms in neutrophils,...
Topics
- Chromosomes, Human, X
- Granulomatous Disease, Chronic
- Humans
- Mutation
- NADPH Oxidase 2