Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Clinical Pathology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
J Clin Immunol. 2023 Nov;43(8):1799-1811. doi: 10.1007/s10875-023-01541-4. Epub 2023 Jul 11.
Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder of phagocytes, characterized by recurrent fungal and bacterial infections. Our aim is to describe the different clinical presentations, non-infectious auto-inflammatory features, types and sites of infections, and to estimate the mortality among our large cohort.
This is a retrospective study conducted at the Pediatric Department of Cairo University Children's Hospital in Egypt, including cases with a confirmed CGD diagnosis.
One hundred seventy-three confirmed CGD patients were included. AR-CGD was diagnosed in 132 patients (76.3%) including 83 patients (48%) with p47 defect, 44 patients (25.4%) with p22 defect, and 5 patients (2.9%) with p67 defect. XL-CGD was diagnosed in 25 patients (14.4%). The most common recorded clinical manifestations were deep-seated abscesses and pneumonia. Gram-negative bacteria and Aspergillus were the most frequently isolated species. Regarding the outcome, 36 patients (20.8%) were lost from follow-up. Among patients with known outcome, 94/137 patients (68.6%) are living, while 43/137 patients (31.4%) died.
AR-CGD is predominant in Egypt; CGD must always be ruled out in any patient presenting with typical or atypical mycobacterial or BCG-disease.
慢性肉芽肿病（CGD）是一种吞噬细胞遗传性原发性免疫缺陷病，其特征为反复发生真菌和细菌感染。我们旨在描述不同的临床表现、非感染性自身炎症特征、感染的类型和部位，并评估我们的大型队列中的死亡率。
这是在埃及开罗大学儿童医院儿科进行的一项回顾性研究，包括确诊 CGD 的病例。
共纳入 173 例确诊 CGD 患者。AR-CGD 诊断 132 例（76.3%），其中 83 例（48%）p47 缺陷，44 例（25.4%）p22 缺陷，5 例（2.9%）p67 缺陷。XL-CGD 诊断 25 例（14.4%）。最常见的记录临床表现为深部脓肿和肺炎。最常分离的菌种为革兰氏阴性菌和曲霉菌。关于结局，36 例（20.8%）失访。在已知结局的患者中，137 例中有 94 例（68.6%）存活，而 137 例中有 43 例（31.4%）死亡。
AR-CGD 在埃及占优势；在任何表现为典型或非典型分枝杆菌或卡介苗病的患者中，均应排除 CGD。
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