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| Author(s): |
Edgar Borges de Oliveira Júnior
Total Authors: 1
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| Document type: | Doctoral Thesis |
| Press: | São Paulo. |
| Institution: | Universidade de São Paulo (USP). Instituto de Ciências Biomédicas (ICB/SDI) |
| Defense date: | 2010-09-30 |
| Examining board members: |
Antonio Condino Neto;
Virginia Paes Leme Ferriani;
Marcelo de Franco;
Cristina Maria Kokron;
Anderson de Sá Nunes
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| Advisor: | Antonio Condino Neto |
| Abstract | |
Chronic granulomatous disease is a primary immunodeficiency characterized by recurrent and severe infections, affecting the body barriers. In these patients, phagocytes present a failure in the respiratory burst caused by a deficiency of the NADPH oxidase system, and a microbicidal defect. Mutations affecting one of the components of the NADPH oxidase system. The dHPLC proved to be more sensitive to the SSCP, being effective in detecting changes in 100% of cases. We found seven different mutations, four of which are original. Are they R226X; R290X; and C537R. Among the unpublished mutations identified: T302fsX46; c. 141 + 5 G > T; C185R; and H222L. We identify the gene mutation V25fsX51 NCF1 in two patients. We have established a correlation between genotype and phenotype clinical relevant clinical manifestations based on DGC in providing important data from each clinical and clinical severity index (CSI) for each type of mutation. The results contribute to the construction of strategies enabling the identification of molecular genetic defects related to CGD. (AU) | |
| FAPESP's process: | 05/59568-0 - Clinical spectrum and molecular genetic defects in patients with chronic granulomatous disease in Brazil and Latin American countries |
| Grantee: | Edgar Borges de Oliveira Junior |
| Support Opportunities: | Scholarships in Brazil - Doctorate |