Chronic granulomatous disease in Latin American patients: Clinical spectrum and molecular genetics

Chronic granulomatous disease in Latin American patients: Clinical spectrum and molecular genetics

Autor Agudelo-Florez, P. Google Scholar
Prando-Andrade, C. C. Google Scholar
Lopez, J. A. Google Scholar
Costa-Carvalho, B. T. Google Scholar
Quezada, A. Google Scholar
Espinosa, F. J. Google Scholar
Paiva, MAD Google Scholar
Roxo, P. Google Scholar
Grumach, A. Google Scholar
Jacob, C. A. Google Scholar
Carneiro-Sampaio, MMS Google Scholar
Newburger, P. E. Google Scholar
Condino-Neto, A. Google Scholar
Instituição Universidade de São Paulo (USP)
Universidade Estadual de Campinas (UNICAMP)
Universidade Federal de São Paulo (UNIFESP)
Univ Chile
Natl Inst Pediat
Rio de Janeiro State Employees Hosp
Univ Massachusetts
Resumo Background. Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by early onset of recurrent and severe infections. the molecular defects causing CGD are heterogeneous and lead to absence, low expression, or malfunctioning of one of the phagocyte NADPH oxidase components. the aim of this study was to analyze the clinical features and to investigate the molecular genetic defects of Latin American patients with CGD.Procedures. the study included 14 patients. the diagnosis was based on a history of recurrent severe infections, impaired respiratory burst, and the demonstration of an underlying mutation by single strand conformation polymorphism (SSCP) or RT-PCR analysis, followed by genomic DNA or cDNA sequencing.Results. Seven unrelated patients were found to have the X-linked form of CGD (X-CGD). Heterogeneous mutations affected the CYBB gene: two insertions, one substitution, and four splice site defects; two of them are novel. Seven patients presented with one of the autosomal recessive forms of CGD (A47-CGD); all had the most common mutation, a Delta GT deletion in exon 2 of the NCF1 gene. Pneumonia was the most frequent clinical feature, followed by pyoderma, sinusitis, otitis, and liver abscess. Patients with X-CGD were more likely to have initial infections before age 2 years and to have inflammatory obstructive granulomas later. None of the patients had severe adverse reactions to BCG immunization.Conclusions. X-CGD patients from Latin America showed a high degree of molecular heterogeneity, including two novel Mutations. Their clinical characteristics included early onset of infections and eventual obstructive granulomas. A47-CGD represented 50% of the reported cases, a higher prevalence than reported in other series.
Assunto BCG
chronic granulomatous disease
primary immunodeficiencies
Idioma Inglês
Data 2006-02-01
Publicado em Pediatric Blood & Cancer. Hoboken: Wiley-liss, v. 46, n. 2, p. 243-252, 2006.
ISSN 1545-5009 (Sherpa/Romeo, fator de impacto)
Editor Wiley-Blackwell
Extensão 243-252
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000234357500020

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