Chronic granulomatous disease with leukocytic glucose-6-phosphate dehydrogenase deficiency in a 28-month-old girl.

Abstract:

: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.

journal_name

Am J Clin Pathol

authors

Corberand J,De Larrard B,Vergnes H,Carrière JP

doi

10.1093/ajcp/70.2.296

subject

Has Abstract

pub_date

1978-08-01 00:00:00

pages

296-300

issue

2

eissn

0002-9173

issn

1943-7722

journal_volume

70

pub_type

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