Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought
Primary Immunodeficiency Diseases Worldwide: More Common than Generally Thought
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DOI：
10.1007/s10875-012-9751-7
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发表时间：
2013-01-01
影响因子：
9.1
通讯作者：
Abel, Laurent
中科院分区：
文献类型：
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作者：
Bousfiha, Ahmed Aziz;Jeddane, Leila;Abel, Laurent
目的原发性免疫缺陷疾病（PID）包括至少176种被认为在个体和集体上罕见的遗传性疾病。PID的实际患病率和发病率尚不清楚，但最近的流行病学研究表明，PID比通常认为的更常见。基于这些研究，我们试图估计PID的全球患病率和发病率。方法使用来自登记处和最近两次流行病学调查的数据估计PID的频率，我们将某些国家报告的频率外推到大陆和世界的人口。结果我们的上限估计表明，全球可能有600万人患有PID，而只有27，000 -60，到目前为止，已经确定了1，000个（分别是所有国家登记册和Jeffrey Modell中心网络）。对于欧洲，我们的上限估计为638，000例，目前登记了15，052例（2.27%）。在非洲，多达902，631人可能患有PID，而目前只有1，016例登记。我们还发现，PID是普遍存在的，不仅在儿童中，而且在成人中，谁是强烈不足的registrations.Conclusion具体，专门的流行病学研究是必需的，以获得更现实的统计PID和提高认识的医生和公共卫生系统对这些疾病。此外，PID领域正在不断发展，这可能导致对这些条件的定义进行修订，可能会增加对成人和儿童在人口水平上的影响的估计。
Purpose Primary immunodeficiency diseases (PIDs) comprise at least 176 hereditary disorders that are thought to be individually and collectively rare. The actual prevalence and incidence of PIDs remains unclear, but recent epidemiologic studies have suggested that PIDs are more common than generally thought. Based on these studies, we attempted to estimate the worldwide prevalence and incidence of PIDs.Methods Using data from registries and two recent epidemiologic surveys estimating the frequencies of PIDs, we extrapolated the frequencies reported for certain countries to the populations of continents and of the world.Results Our upper estimates suggest that six million people may be living with a PID worldwide, whereas only 27,000-60,000 have been identified to date (all national registries and the Jeffrey Modell Centers Network, respectively). For Europe, our upper estimate was 638,000 cases, and 15,052 cases are currently registered (2.27 %). In Africa, up to 902,631 people may have a PID, whereas only 1,016 cases are currently registered. We also found that PIDs were prevalent not only in children, but also in adults, who were strongly underrepresented in registries.Conclusion Specific, dedicated epidemiologic studies are required, to obtain more realistic statistics for PIDs and to increase the awareness of physicians and public health systems about these diseases. Furthermore, the field of PIDs is continually growing, and this is likely to lead to a revision of the definition of these conditions, potentially increasing estimates of their impact on both adults and children, at the population level.