Haddad H L, Beatty D W, Dowdle E B
S Afr Med J. 1976 Dec 4;50(52):2068-72.
Two boys and one girl suffering from recurrent severe bacterial infections were investigated. All 3 exhibited normal cellular and humoral immunity, normal neutrophil phagocytic ability, and defective neutrophil bacterial capacity. The clinical features and laboratory findings in these patients are diagnostic of chronic granulomatous disease. A sex-linked inheritance pattern was confirmed in 1 patient by the demonstration of a heterozygous carrier state in the mother.
对两名男孩和一名患有复发性严重细菌感染的女孩进行了调查。所有三人的细胞免疫和体液免疫均正常,中性粒细胞吞噬能力正常,但中性粒细胞杀菌能力存在缺陷。这些患者的临床特征和实验室检查结果可诊断为慢性肉芽肿病。通过证明母亲为杂合子携带者状态,在一名患者中证实了X连锁遗传模式。