Chronic Granulomatous Disease (CGD) is caused by the failure of the phagocytes to kill pathogens. We carried out a retrospective analysis of cellular, molecular and clinical features of 14 young patients (mean age at the onset of symptoms and diagnosis: 10 and 25 months, respectively), 7 with autosomal recessive and 7 X-linked form, referred to the Children's Hospital of Brescia between 1999 and 2016. Two new mutations were found, one localized in the CYBB and one in the NCF1 genes. Twelve patients were followed in our institution; the average length of their follow-up after diagnosis was 66 months in X-linked patients and 126 months in autosomal recessive inheritance. The overall survival was 67%, 40% in X-linked and 86% in autosomal recessive form. Eight patients were treated with HSCT. We did not find a clear correlation between the clinical symptoms and the type of mutation, but the fine characterization of the patients was mandatory for therapeutic option, genetic counseling and prenatal diagnosis.

慢性肉芽肿病（CGD）是由于吞噬细胞未能杀死病原体引起的。我们对14例年轻患者（症状发作和诊断的平均年龄分别为10和25个月），7例常染色体隐性和7 X连锁形式的患者进行了细胞，分子和临床特征的回顾性分析。布雷西亚儿童医院在1999年至2016年之间。发现了两个新突变，一个位于CYBB中，一个位于NCF1中。基因。在我们的机构中​​，有十二名患者被随访。X连锁患者的诊断后平均随访时间为66个月，常染色体隐性遗传为126个月。总体存活率为67％，X-连锁为40％，常染色体隐性形式为86％。八例患者接受了HSCT治疗。我们没有发现临床症状与突变类型之间存在明显的相关性，但是对患者的精细描述对于治疗选择，遗传咨询和产前诊断是必不可少的。