Akademik Veri Yönetim Sistemi
Köker M. Y. (Yürütücü)
TÜBİTAK Uluslararası Çoklu İşbirliği Projesi , 2010 - 2014
Chronic granulomatous disease (CGD) is am immune deficiency characterized by a severe defect in the function of the phagocytes, a particular type of white blood cells. Patients with CGD are highly susceptible to bacterial and fungi infections, which occur in many organs. Due an increased inflammatory response patients also undergo formation of granulomas in tissues. Despite the extensive use of antibiotic and improvements in bone marrow transplant procedures, treatment of CGD remains challenging. The first objectives of this project were to provide more information on the mechanisms that cause the disease alterations and immune deficiency, also taking into account different gene defects found in patients. The other goal was to develop novel therapeutic approaches based on gene therapy with blood stem cells.
We studied in depth more
than 100 European patients affected by CGD, particularly from Turkey and Italy.
We obtained important information on the genetic, biochemical and clinical
features of these patients and the different disease variants. Immunological
studies allowed us to better clarify the role of other cells of the immune
systems, in addition to phagocytes. We found that both T cells and B lymphocytes
can contribute to cause disease manifestations. Finally, we designed and tested
a novel gene therapy approach for the treatment of the X- linked form of CGD using HIV-derived vectors. Preclinical studies have
been successfully completed and we are moving to clinical trials using gene
corrected patients blood stem cells. Overall, our results have improved our understanding
of the disease and have allowed us to bring to clinical applications novel gene
therapy approaches for CGD.