Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea.
J Korean Med Sci. 2012 Jul;27(7):788-93. doi: 10.3346/jkms.2012.27.7.788. Epub 2012 Jun 29.
This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.
本研究代表了首个基于韩国原发性免疫缺陷（PID）国家登记处的流行病学研究。患者数据由 23 家主要医院收集。该登记处共纳入了 152 名（年龄均在 19 岁以下）PID 患者，这些患者的观察时间从 2001 年至 2005 年。2005 年韩国 PID 的时期患病率为每百万儿童 11.25 例。以下为各类 PID 的发现频率：抗体缺陷 53.3%（81 例）、吞噬细胞功能障碍 28.9%（44 例）、联合免疫缺陷 13.2%（20 例）和 T 细胞缺陷 4.6%（7 例）。先天性无丙种球蛋白血症（n = 21）和选择性 IgA 缺乏症（n = 21）是最常报道的抗体缺陷。其他报道的缺陷还包括常见可变免疫缺陷（n = 16）、X 连锁无丙种球蛋白血症（n = 15）、IgG 亚类缺乏症（n = 4）。吞噬细胞功能障碍主要为慢性肉芽肿病。还有少数患有 Wiskott-Aldrich 综合征、高 IgE 综合征和严重联合免疫缺陷的患者也被登记。总体而言，最常见的首发症状是肺炎。本研究提供的数据可以更准确地估计韩国 PID 患者的情况。
