The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008
The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008
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DOI：
10.1111/j.1365-2249.2009.03954.x
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发表时间：
2009-09-01
影响因子：
4.6
通讯作者：
Kindle, G.
中科院分区：
文献类型：
--
作者：
Gathmann, B.;Grimbacher, B.;Kindle, G.
原发性免疫缺陷（PID）是罕见的疾病；因此，跨国研究对于最大限度地提高科学成果和改善诊断和治疗是必不可少的。为了估计PID在欧洲的患病率，以及建立和评估PID诊断和治疗的统一指南，欧洲免疫缺陷学会（ESID）开发了一个基于互联网的PID患者临床和研究数据数据库。该数据库是流行病学分析、开发新的诊断和治疗策略以及鉴定新的疾病相关基因的平台。在4年内，来自39个国家的7430名患者被记录在ESID数据库中。常见可变免疫缺陷（CVID）是最常见的实体，有1540例患者，占所有条目的20.7%，其次是分离免疫球蛋白（Ig）G亚类缺陷（546例，7.4%）。评估显示，PID患者的平均预期寿命（中位数）在1至49岁之间，这取决于PID的类型。PID的患病率和发病率仍然是一个需要回答的关键问题。由于登记进度远未完成，我们只能计算PID的最小值，例如法国目前显示的最低患病率为每10万居民3.72例患者。最常见的永久性治疗是免疫球蛋白替代；目前有2819名患者（占所有存活患者的42%）接受这种治疗。
Primary immunodeficiencies (PID) are rare diseases; therefore transnational studies are essential to maximize the scientific outcome and to improve diagnosis and therapy. In order to estimate the prevalence of PID in Europe as well as to establish and evaluate harmonized guidelines for the diagnosis and treatment of PID, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Within 4 years, 7430 patients from 39 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity, with 1540 patients or 20.7% of all entries, followed by isolated immunoglobulin (Ig)G subclass deficiency (546 patients, 7.4%). Evaluations show that the average life expectancy for PID patients varies from 1 to 49 years (median), depending on the type of PID. The prevalence and incidence of PID remains a key question to be answered. As the registration progress is far from finished we can only calculate minimum values for PID, with e.g. France currently showing a minimum prevalence of 3.72 patients per 100 000 inhabitants. The most frequently documented permanent treatment is immunoglobulin replacement; 2819 patients (42% of all patients alive) currently receive this form of treatment.