Pérez-Aradas V, Mancebo E, Talayero P, González-Granado L I, Allende L M
Servicio de Inmunología, Hospital Universitario 12 de Octubre, Madrid, España.
An Pediatr (Barc). 2011 Apr;74(4):261-5. doi: 10.1016/j.anpedi.2010.10.014. Epub 2011 Feb 5.
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency caused by the alteration of the enzyme complex NADPH oxidase, which affects the phagocytic function. CGD patients are susceptible to recurrent infections mainly caused by bacteria and/or fungi.
We studied a 6 year-old boy with suspicion of CGD. The diagnosis was confirmed based on the functional study of NADPH oxidase. Simultaneously, the second pregnancy of the mother was reported and genetic counselling was requested.
We identified a new disease-causing mutation by direct sequencing of the CYBB gene (X-linked CGD). The prenatal study resulted in the identification of the same mutation in the foetus.
Molecular genetics characterisation of CGD is needed to obtain an accurate diagnosis of the disease and to offer prenatal diagnosis and genetic counselling in future pregnancies.
慢性肉芽肿病（CGD）是一种罕见的原发性免疫缺陷病，由酶复合物烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶改变引起，影响吞噬功能。CGD患者易发生主要由细菌和/或真菌引起的反复感染。
我们研究了一名怀疑患有CGD的6岁男孩。基于NADPH氧化酶的功能研究确诊。同时，报告了母亲的第二次怀孕情况并请求进行遗传咨询。
通过对CYBB基因（X连锁CGD）直接测序，我们鉴定出一种新的致病突变。产前研究结果显示胎儿存在相同突变。
需要对CGD进行分子遗传学特征分析，以准确诊断该病，并为未来妊娠提供产前诊断和遗传咨询。
