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| Agudelo-Flórez,P.; López,J.A.; Redher,J.; Carneiro-Sampaio,M.M.S.; Costa-Carvalho,B.T.; Grumach,A.S.; Condino-Neto,A.. |
| Chronic granulomatous disease (CGD) is an inherited disorder of the innate immune system characterized by a defective oxidative burst of phagocytes and subsequent impairment of their microbicidal activity. Mutations in one of the NADPH-oxidase components affect gene expression or function of this system, leading to the phenotype of CGD. Defects in gp91-phox lead to X-linked CGD, responsible for approximately 70% of CGD cases. Investigation of the highly heterogeneous genotype of CGD patients includes mutation analysis, Northern blot or Western blot assays according to the particular case. The aim of the present study was to use reverse transcription (RT)-PCR for the analysis of molecular defects responsible for X-linked CGD in eight Brazilian patients and... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Superoxide; Phagocytes; Primary immunodeficiency; Respiratory burst; Neutrophils; Human. |
| Ano: 2004 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2004000500001 |
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