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dc.contributor.authorAgudelo-Florez, P.
dc.contributor.authorCosta-Carvalho, Beatriz Tavares [UNIFESP]
dc.contributor.authorLopez, J. A.
dc.contributor.authorRedher, J.
dc.contributor.authorNewburger, P. E.
dc.contributor.authorAlla-Saad, S. T.
dc.contributor.authorCondino-Neto, A.
dc.identifier.citationAmerican Journal of Hematology. New York: Wiley-liss, v. 75, n. 3, p. 151-156, 2004.
dc.description.abstractPatients 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. Am. J. Hematol. 75:151-156, 2004. (C) 2004 Wiley-Liss, Inc.en
dc.relation.ispartofAmerican Journal of Hematology
dc.rightsAcesso aberto
dc.subjectchronic granulomatous diseaseen
dc.subjectG6PD deficiencyen
dc.subjectrecurrent infectionsen
dc.titleAssociation of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infectionsen
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Massachusetts
dc.description.affiliationUniv Estadual Campinas, Sch Med, Ctr Invest Pediat, BR-13081970 Campinas, SP, Brazil
dc.description.affiliationUniv Estadual Campinas, Sch Med, Dept Pediat, BR-13081970 Campinas, SP, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, Brazil
dc.description.affiliationUniv Massachusetts, Sch Med, Dept Pediat, Worcester, MA USA
dc.description.affiliationState Univ Campinas, Sch Med, Dept Med, Div Hematol, Campinas, SP, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Pediat, Div Allergy Immunol & Rheumatol, São Paulo, Brazil
dc.description.sourceWeb of Science

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