Hematologically Important Mutations: the Autosomal Recessive Forms of Chronic Granulomatous Disease (second Update)

Overview

Journal Blood Cells Mol Dis

Specialty Hematology

Date 2010 Feb 20

PMID 20167518

Citations 69

Authors

Dirk Roos

Douglas B Kuhns

Anne Maddalena

Jacinta Bustamante

Caroline Kannengiesser

Martin de Boer

Karin van Leeuwen

M Yavuz Koker

Baruch Wolach

Joachim Roesler

Harry L Malech

Steven M Holland

John I Gallin

Marie-Jose Stasia

Affiliations

Soon will be listed here.

Abstract

Chronic granulomatous Disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by mutations in the genes encoding the components of the leukocyte NADPH oxidase. This enzyme produces superoxide, which is essential in the process of intracellular pathogen killing by phagocytic leukocytes. Four of the five genes involved in CGD are autosomal; these are CYBA, encoding p22-phox, NCF2, encoding p67-phox, NCF1, encoding p47-phox, and NCF4, encoding p40-phox. This article lists all mutations identified in these genes in the autosomal forms of CGD. Moreover, polymorphisms in these genes are also given, which should facilitate the recognition of future disease-causing mutations.

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