Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox

Dirk Roos^1*, Jaap D Van Buul¹, Anton TJ Tool¹, Juan D Matute², Christophe M Marchal², Bu’Hussain Hayee³, M Yavuz Köker⁴, Martin De Boer¹, Karin Van Leeuwen¹, Anthony W Segal³, Edgar Pick⁵ and Mary C Dinauer²

¹Sanquin Research and Landsteiner Laboratory, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

²Departments of Pediatrics (Hematology/Oncology), Microbiology/Immunology, and Medical and Molecular Genetics, Riley Hospital for Children, Indiana University School of Medicine, Indianapolis, IN, USA

³Department of Medicine, University College London, London, United Kingdom

⁴Department of Immunology and Immunology Laboratory, Faculty of Medicine, University of Erciyes, Kayseri, Turkey

⁵Julius Friedrich Cohnheim Laboratory of Phagocyte Research, Sackler School of Medicine, Tel Aviv University, Israel

^*Corresponding Author: Dr. Dirk Roos, Sanquin Research, Plesmanlaan 125 1066 CX Amsterdam, The Netherlands, Tel: 00-31-20-5123317, Fax: 00-31-20-5123310 Email: