Department of Pediatrics, Min-Sheng General Hospital, Taoyuan, Taiwan.
Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.
J Microbiol Immunol Infect. 2023 Feb;56(1):130-138. doi: 10.1016/j.jmii.2022.06.005. Epub 2022 Jul 6.
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disease characterized by defective neutrophil killing of microbial pathogens and recurrent infections. We aimed to investigate the clinical, genetic features, treatment, and outcomes in patients with CGD.
Pediatric patients diagnosed with CGD from a medical center in Taiwan were enrolled from January 1999 to Oct 2021.
Nine pediatric patients with CGD were enrolled: six X-linked (XL) CGD with CYBB gene mutations, three autosomal recessive (AR) CGD with two NCF1 and one CYBA gene mutations. The median age of onset and age of diagnosis was 0.92 and 2.64 years, respectively. Patients with XL-CGD had a younger age of onset (4.6 months vs. 1.83 years, P = 0.06) and age of diagnosis (1.71 vs. 8.86 years, P = 0.024) than AR-CGD patients. The most common sites of infections were skin and soft tissue abscesses. The most common pathogens were Staphylococcus, Serratia, and Salmonella spp. Prophylactic antibiotics, anti-fungal agents, and interferon-gamma (IFN-γ) were given in 9 (100%), 7 (77.8%), and 8 (88.9%) patients, respectively. The mean duration of IFN-γ usage was 5.15 years. One male patient with XL-CGD was successfully treated with hematopoietic stem cell transplantation at 2.2 years. The mortality rate was 11.1%, and the estimated overall survival at 20 years was 66.7%.
Staphylococcus aureus, Serratia marcescens, and Salmonella infections are important in Taiwanese CGD patients. Patients with XL-CGD have early disease onset. IFN-γ prophylaxis and prophylactic anti-microbial agents might have an effect on alleviating the infection episodes in CGD patients.
慢性肉芽肿病（CGD）是一种罕见的原发性免疫缺陷病，其特征为中性粒细胞对微生物病原体的杀伤功能缺陷和反复感染。本研究旨在探讨 CGD 患者的临床、遗传特征、治疗和结局。
本研究纳入了 1999 年 1 月至 2021 年 10 月期间在台湾某医疗中心确诊 CGD 的儿科患者。
本研究纳入了 9 例 CGD 患儿：6 例为 X 连锁（XL）CGD，存在 CYBB 基因突变；3 例为常染色体隐性（AR）CGD，存在 2 例 NCF1 基因突变和 1 例 CYBA 基因突变。中位发病年龄和确诊年龄分别为 0.92 岁和 2.64 岁。与 AR-CGD 患者相比，XL-CGD 患者的发病年龄更轻（4.6 个月 vs. 1.83 岁，P=0.06），确诊年龄更小（1.71 岁 vs. 8.86 岁，P=0.024）。最常见的感染部位为皮肤和软组织脓肿。最常见的病原体为金黄色葡萄球菌、粘质沙雷菌和沙门氏菌。9 例（100%）患者接受了预防性抗生素、抗真菌药物和干扰素-γ（IFN-γ）治疗，7 例（77.8%）患者接受了抗真菌药物治疗，8 例（88.9%）患者接受了 IFN-γ治疗。IFN-γ 的平均使用时间为 5.15 年。1 例 XL-CGD 男性患者于发病后 2.2 年接受了造血干细胞移植治疗并获得成功。死亡率为 11.1%，20 年总体生存率为 66.7%。
金黄色葡萄球菌、粘质沙雷菌和沙门氏菌感染在台湾 CGD 患者中较为重要。XL-CGD 患者发病较早。IFN-γ 预防和预防性抗菌药物可能对缓解 CGD 患者的感染发作有一定作用。
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