Hematologically important mutations: X-linked chronic granulomatous disease (third update)

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Roos D., Kuhns D. B., Maddalena A., Roesler J., Alvaro Lopez J., Ariga T., ...More

BLOOD CELLS MOLECULES AND DISEASES, vol.45, pp.246-265, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45
  • Publication Date: 2010
  • Doi Number: 10.1016/j.bcmd.2010.07.012
  • Journal Name: BLOOD CELLS MOLECULES AND DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.246-265
  • Keywords: gp91(phox), Chronic granulomatous disease, Mutation, CYBB, NADPH oxidase, X-linked disease, HEAVY-CHAIN GENE, HUMAN NADPH OXIDASE, AUTOSOMAL RECESSIVE FORMS, CYBB GENE, CYTOCHROME B(558), GP91-PHOX GENE, MOLECULAR ANALYSIS, POINT MUTATION, MISSENSE MUTATION, PROMOTER REGION
  • Erciyes University Affiliated: Yes

Abstract

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.

Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations. (C) 2010 Elsevier Inc. All rights reserved.