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

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    Authors
    Agudelo-Florez, Piedad
    prando-Andrade, Carolina Cardoso
    Lopez, Juan Alvaro
    Costa-Carvalho, Beatriz Tavares
    Quezada, Arnoldo
    Espinosa, Francisco Jose
    de Souza Paiva, Maria Aparecida
    Roxo, Persio Jr.
    Grumach, Anete
    Jacob, Cristina Abe
    Carneiro-Sampaio, Magda Maria Salles
    Newburger, Peter E.
    Condino-Neto, Antonio
    Show allShow less
    UMass Chan Affiliations
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2005-08-27
    Keywords
    DNA Mutational Analysis
    Exons
    Female
    Genes, Recessive
    Granulomatous Disease, Chronic
    Humans
    Latin America
    Male
    Membrane Glycoproteins
    *Mutagenesis, Insertional
    NADPH Oxidase
    Phosphoproteins
    *Polymorphism, Single-Stranded Conformational
    RNA Splice Sites
    Reverse Transcriptase Polymerase Chain Reaction
    *Sequence Deletion
    Hematology
    Oncology
    Pediatrics
    Show allShow less
    
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    Link to Full Text
    http://dx.doi.org/10.1002/pbc.20455
    Abstract
    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 DeltaGT 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.
    Source
    Pediatr Blood Cancer. 2006 Feb;46(2):243-52. doi: 10.1002/pbc.20455
    DOI
    10.1002/pbc.20455
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43407
    PubMed ID
    16123991
    Related Resources
    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1002/pbc.20455
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