Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl.
A 28-month-old girl, whose parents are first cousins, was hospitalized following a series of severe infections. Results of functional granulocytic tests permitted the diagnosis of chronic granulomatous disease (lack of nitroblue tetrazolium dye reduction, impaired bactericidal activity for Staphylococcus aureus but normal activity for Streptococcus foecalis). Random migration was also impaired, and leukocytic glucose-6-phosphate dehydrogenase (G6PD) activity was decreased (37% of the normal mean). In contrast, erythrocytic G6PD activity was normal. Similar leukocytic studies of both parents revealed a moderate decrease of the mother's leukocytic G6PD activity (62% of the normal mean). This case represents an additional argument in favor of the recessive autosomal transmission of chronic granulomatous disease in females.
D002465:Cell Movement; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications*; D006105:Granulomatous Disease, Chronic / Q000150:complications* / Q000235:genetics; D006801:Humans; D007962:Leukocytes / Q000201:enzymology* / Q000502:physiology; D009580:Nitroblue Tetrazolium
D009580:Nitroblue Tetrazolium