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

Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto, Gigliola Di Matteo, Jianxin He, Harry R. Hill, Steven M. Holland, Caroline Kannengiesser, M. Yavuz Köker, Irina Kondratenko, Karin van Leeuwen, Harry L. Malech, László MarodiHiroyuki Nunoi, Marie José Stasia, Anna Maria Ventura, Carl T. Witwer, Baruch Wolach, John I. Gallin

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)246-265
Number of pages20
JournalBlood Cells, Molecules, and Diseases
Issue number3
StatePublished - Oct 2010
Externally publishedYes


  • CYBB
  • Chronic granulomatous disease
  • Gp91
  • Mutation
  • NADPH oxidase
  • X-linked disease


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