Notarangelo Luigi, Casanova Jean-Laurent, Conley Mary Ellen, Chapel Helen, Fischer Alain, Puck Jennifer, Roifman Chaim, Seger Reinhard, Geha Raif S
Department of Pediatrics, University of Brescia Spedali Civili, Italy.
J Allergy Clin Immunol. 2006 Apr;117(4):883-96. doi: 10.1016/j.jaci.2005.12.1347.
Although relatively rare, primary immunodeficiency diseases (PIDs) provide an excellent window into the functioning of the immune system. In the late 1960s, observations on these diseases, with their associated infections and genetics, bisected the immune system into humoral immunity and cell-mediated immunity. These diseases also represent a challenge in their diagnosis and treatment. Beginning in 1970, a unified nomenclature for the then-known PIDs was created by a committee convoked by the World Health Organization. Since then, and later under the aegis of the International Union of Immunological Societies, an international committee of experts has met every 2 to 3 years to update the classification of PIDs. During the past 15 years, the molecular basis of more than 120 PIDs has been elucidated. This update results from the latest meeting of this committee in Budapest, Hungary, in June 2005, which followed 2 1/2 days of scientific discussions. As a result of this work, new entities have been included, and the nomenclature of some PIDs (specifically of the various forms of class-switch recombination defects, previously known as hyper-IgM syndromes) has been changed.
尽管原发性免疫缺陷病（PIDs）相对罕见，但它们为了解免疫系统的功能提供了一个绝佳的窗口。在20世纪60年代末，对这些疾病及其相关感染和遗传学的观察将免疫系统一分为二，即体液免疫和细胞介导免疫。这些疾病在诊断和治疗方面也构成了挑战。从1970年开始，世界卫生组织召集的一个委员会为当时已知的PIDs制定了统一的命名法。从那时起，后来在国际免疫学会联盟的支持下，一个国际专家委员会每2至3年召开一次会议，以更新PIDs的分类。在过去15年里，120多种PIDs的分子基础已被阐明。此次更新源于该委员会2005年6月在匈牙利布达佩斯举行的最新会议，此前进行了两天半的科学讨论。这项工作的结果是，新增了一些疾病实体，并对一些PIDs的命名（特别是各种形式的类别转换重组缺陷，以前称为高IgM综合征）进行了更改。
