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Type: Artigo de periódico
Title: Association Of Glucose-6-phosphate Dehydrogenase Deficiency And X-linkled Chronic Granulomatous Disease In A Child With Anemia And Recurrent Infections
Author: Agudelo-Florez P.
Costa-Carvalho B.T.
Lopez J.A.
Redher J.
Newburger P.E.
Olalla-Saad S.T.
Condino-Neto A.
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 of 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. © 2004 Wiley-Liss, Inc.
Rights: fechado
Identifier DOI: 10.1002/ajh.10477
Date Issue: 2004
Appears in Collections:Unicamp - Artigos e Outros Documentos

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