Corberand J, De Larrard B, Vergnes H, Carrière J P
Am J Clin Pathol. 1978 Aug;70(2):296-300. doi: 10.1093/ajcp/70.2.296.
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.
一名28个月大的女孩，其父母是近亲，在经历一系列严重感染后住院。功能性粒细胞检测结果确诊为慢性肉芽肿病（缺乏硝基蓝四唑还原能力，对金黄色葡萄球菌的杀菌活性受损，但对粪链球菌的活性正常）。随机迁移也受损，白细胞葡萄糖-6-磷酸脱氢酶（G6PD）活性降低（为正常均值的37%）。相比之下，红细胞G6PD活性正常。对父母双方进行的类似白细胞研究显示，母亲的白细胞G6PD活性中度降低（为正常均值的62%）。该病例为慢性肉芽肿病在女性中隐性常染色体遗传提供了又一论据。
