Journal of Clinical and Cellular Immunology
Open Access

Dirk Roos

Publications

• Research Article
  Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox
  Author(s): Dirk Roos, Jaap D van Buul, Anton TJ Tool, Juan D Matute, Christophe M Marchal, Bu’Hussain Hayee, M Yavuz Köker, Martin de Boer, Karin van Leeuwen, Anthony W Segal, Edgar Pick and Mary C DinauerDirk Roos, Jaap D van Buul, Anton TJ Tool, Juan D Matute, Christophe M Marchal, Bu’Hussain Hayee, M Yavuz Köker, Martin de Boer, Karin van Leeuwen, Anthony W Segal, Edgar Pick and Mary C Dinauer
  
  Study background: Chronic granulomatous Disease (CGD) is a rare immunodeficiency caused by a defect in the leukocyte NADPH oxidase. This enzyme generates superoxide, which is needed for the killing of bacteria and fungi by phagocytic leukocytes. Most CGD patients have mutations in CYBB, the X-linked gene that encodes gp91phox, the catalytic subunit of the leukocyte NADPH oxidase. We report here three autosomal recessive CGD patients from two families with a homozygous mutation in NCF2, the gene that encodes p67phox, the activator subunit of the NADPH oxidase. Methods: Leukocyte NADPH oxidase activity, expression of oxidase components and gene sequences were measured with standard methods. The mutation found in the patients’ NCF2 gene was expressed as Ala202Valp67phox in K562 cells to mea.. View More»
  DOI: 10.4172/2155-9899.1000231

  Abstract PDF

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