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

dc.creatorAgudelo-Florez, P
dc.creatorCosta-Carvalho, BT
dc.creatorLopez, JA
dc.creatorRedher, J
dc.creatorNewburger, PE
dc.creatorAlla-Saad, ST
dc.creatorCondino-Netol, A
dc.date2004
dc.dateMAR
dc.date2014-11-17T00:47:45Z
dc.date2015-11-26T17:28:31Z
dc.date2014-11-17T00:47:45Z
dc.date2015-11-26T17:28:31Z
dc.date.accessioned2018-03-29T00:15:39Z
dc.date.available2018-03-29T00:15:39Z
dc.identifierAmerican Journal Of Hematology. Wiley-liss, v. 75, n. 3, n. 151, n. 156, 2004.
dc.identifier0361-8609
dc.identifierWOS:000189317500007
dc.identifier10.1002/ajh.10477
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/55066
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/55066
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/55066
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1285077
dc.descriptionPatients 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.
dc.description75
dc.description3
dc.description151
dc.description156
dc.languageen
dc.publisherWiley-liss
dc.publisherNew York
dc.publisherEUA
dc.relationAmerican Journal Of Hematology
dc.relationAm. J. Hematol.
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectchronic granulomatous disease
dc.subjectG6PD deficiency
dc.subjectrecurrent infections
dc.subjectanemia
dc.subjectphagocytes
dc.subjectHematologically Important Mutations
dc.subjectChronic Nonspherocytic Anemia
dc.subjectAutosomal Recessive Forms
dc.subjectIncreased Susceptibility
dc.subjectGranulocyte Dysfunction
dc.subjectDehydrogenase
dc.subjectUpdate
dc.titleAssociation of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections
dc.typeArtículos de revistas


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