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dc.contributor.authorAgudelo-Florez, P.
dc.contributor.authorPrando-Andrade, C. C.
dc.contributor.authorLopez, J. A.
dc.contributor.authorCosta-Carvalho, B. T.
dc.contributor.authorQuezada, A.
dc.contributor.authorEspinosa, F. J.
dc.contributor.authorPaiva, MAD
dc.contributor.authorRoxo, P.
dc.contributor.authorGrumach, A.
dc.contributor.authorJacob, C. A.
dc.contributor.authorCarneiro-Sampaio, MMS
dc.contributor.authorNewburger, P. E.
dc.contributor.authorCondino-Neto, A.
dc.identifier.citationPediatric Blood & Cancer. Hoboken: Wiley-liss, v. 46, n. 2, p. 243-252, 2006.
dc.description.abstractBackground. 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.en
dc.relation.ispartofPediatric Blood & Cancer
dc.rightsAcesso restrito
dc.subjectchronic granulomatous diseaseen
dc.subjectprimary immunodeficienciesen
dc.titleChronic granulomatous disease in Latin American patients: Clinical spectrum and molecular geneticsen
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Chile
dc.contributor.institutionNatl Inst Pediat
dc.contributor.institutionRio de Janeiro State Employees Hosp
dc.contributor.institutionUniv Massachusetts
dc.description.affiliationUniv São Paulo, Dept Immunol, Inst Biomed Sci, BR-05508900 São Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, Ctr Invest Pediat, Sch Med, Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, Dept Pediat, Sch Med, Campinas, SP, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Sch Med, Div Allergy Immunol & Rheumatol, Dept Pediat, São Paulo, Brazil
dc.description.affiliationUniv Chile, Sch Med, Dept Pediat, Santiago, Chile
dc.description.affiliationNatl Inst Pediat, Dept Immunol, Mexico City, DF, Mexico
dc.description.affiliationRio de Janeiro State Employees Hosp, Rio de Janeiro, Brazil
dc.description.affiliationUniv São Paulo, Dept Pediat, Ribeirao Preto Med Sch, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Sch Med, Dept Pediat, São Paulo, Brazil
dc.description.affiliationUniv São Paulo, Sch Med, Dept Dermatol, São Paulo, Brazil
dc.description.affiliationUniv Massachusetts, Sch Med, Dept Pediat, Worcester, MA 01605 USA
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Sch Med, Div Allergy Immunol & Rheumatol, Dept Pediat, São Paulo, Brazil
dc.description.sourceWeb of Science

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