Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections
Costa-Carvalho, Beatriz T.
Lopez, Juan Alvaro
Newburger, Peter E.
Olalla-Saad, Sara Teresinha
UMass Chan AffiliationsDepartment of Pediatrics
Document TypeJournal Article
KeywordsAmino Acid Substitution
Glucosephosphate Dehydrogenase Deficiency
Granulomatous Disease, Chronic
Molecular Sequence Data
Polymorphism, Single-Stranded Conformational
MetadataShow full item record
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.
SourceAm J Hematol. 2004 Mar;75(3):151-6. doi: 10.1002/ajh.10477
Permanent Link to this Itemhttp://hdl.handle.net/20.500.14038/43386
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