Samarghitean Crina, Ortutay Csaba, Vihinen Mauno
Institute of Medical Technology, University of Tampere, Tampere, Finland.
J Immunol. 2009 Dec 1;183(11):7569-75. doi: 10.4049/jimmunol.0901837. Epub 2009 Nov 16.
The classification of diseases has several important applications ranging from diagnosis and choice of treatment to demographics. To date, classifications have been successfully created manually, often within international consortia. Some groups of diseases, such as primary immunodeficiencies (PIDs), are especially hard to nosologically cluster due, on one hand, to the presence of a wide variety of disorders and, in contrast, because of overlapping characteristics. More than 200 PIDs affecting components of the innate and adaptive immune systems have been described. Clinical, pathological, and laboratory characteristics were collected and used to group PIDs. A consensus of at least five independent methods provided a novel classification of 11 groups, which revealed previously unknown features and relationships of PIDs. Comparison of the classification to independent features, including the severity and therapy of the diseases, functional classification of proteins, and network vulnerability, indicated a strong statistical support. The method can be applied to any group of diseases.
疾病分类有若干重要应用，范围从诊断、治疗选择到人口统计学。迄今为止，分类通常是在国际联盟内部通过人工成功创建的。某些疾病组，如原发性免疫缺陷病（PID），在病因分类上尤其难以聚类，一方面是由于存在各种各样的病症，另一方面是因为特征相互重叠。已描述了200多种影响先天性和适应性免疫系统组成部分的PID。收集了临床、病理和实验室特征并用于对PID进行分组。至少五种独立方法达成的共识提供了一个11组的新分类，揭示了PID以前未知的特征和关系。将该分类与包括疾病严重程度和治疗、蛋白质功能分类以及网络脆弱性在内的独立特征进行比较，显示出有力的统计学支持。该方法可应用于任何疾病组。
