Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update).

Dirk Roos, Douglas B Kuhns, Anne Maddalena, Jacinta Bustamante, Caroline Kannengiesser, Martin de Boer, Karin van Leeuwen, M Yavuz Köker, Baruch Wolach, Joachim Roesler, Harry L Malech, Steven M Holland, John I Gallin, Marie-José Stasia

Journal: Blood cells, molecules & diseases 2010;44(4):291-9

PMID: 20167518

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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.

Address: Sanquin Research, and Karl Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. [email protected] <[email protected]>

DOI: 10.1016/j.bcmd.2010.01.009

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MeSH Terms: Amino Acid Substitution, Codon, Nonsense, Genes, Recessive, Granulomatous Disease, Chronic, Humans, Mutation, Mutation, Missense, NADPH Oxidases, Point Mutation, Polymorphism, Genetic, Pseudogenes, RNA Splice Sites, Sequence Deletion