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    Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections

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    Authors
    Agudelo-Florez, Piedad
    Costa-Carvalho, Beatriz T.
    Lopez, Juan Alvaro
    redher, Jussara
    Newburger, Peter E.
    Olalla-Saad, Sara Teresinha
    Condino-Neto, Antonio
    UMass Chan Affiliations
    Department of Pediatrics
    Document Type
    Journal Article
    Publication Date
    2004-03-01
    Keywords
    Amino Acid Substitution
    Anemia
    Base Sequence
    Blood Cells
    Child
    DNA
    DNA, Complementary
    Gene Expression
    Glucosephosphate Dehydrogenase
    Glucosephosphate Dehydrogenase Deficiency
    Granulomatous Disease, Chronic
    Humans
    Infection
    Male
    Molecular Sequence Data
    Polymorphism, Single-Stranded Conformational
    Superoxides
    Hematology
    Oncology
    Pediatrics
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    Link to Full Text
    http://dx.doi.org/10.1002/ajh.10477
    Abstract
    Patients with severe leukocyte G6PD deficiency may present with impairment of NADPH oxidase activity and a history of recurrent infections, mimicking the phenotype of chronic granulomatous disease. We report herein a child with recurrent infections who initially received the diagnosis of G6PD deficiency. His erythrocyte G6PD activity was reduced: 1.8 U/g Hb (normal: 12.1 +/- 2.1 U/g Hb). Further studies revealed that G6PD activity in neutrophils, mononuclear leukocytes, and Epstein-Barr virus-transformed B-lymphocytes from the proband was similar to healthy controls. Molecular studies showed that the G6PD deficiency was due a 202 G-->A mutation, the A- variant common in African ethnic groups. The proband also exhibited severely impaired respiratory burst activity, as observed in X-linked CGD. Sequence analysis of genomic DNA showed a 264 G-->A substitution at the 3' splice junction of gp91-phox exon 3. The cDNA sequence showed a deletion of gp91-phox exon 3, giving rise to an unstable or nonfunctional mutant gp91-phox and to the phenotype of X-linked CGD. We propose that clinicians treating a patient with G6PD deficiency during a severe infection episode consider the possibility of temporary or permanent impairment of the phagocytes' microbicidal activity and the eventual association of G6PD deficiency and chronic granulomatous disease.
    Source
    Am J Hematol. 2004 Mar;75(3):151-6. doi: 10.1002/ajh.10477
    DOI
    10.1002/ajh.10477
    Permanent Link to this Item
    http://hdl.handle.net/20.500.14038/43386
    PubMed ID
    14978696
    Related Resources
    Link to article in PubMed
    ae974a485f413a2113503eed53cd6c53
    10.1002/ajh.10477
    Scopus Count
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