Fischer Alain
Inserm, U768, Paris F-75015, France.
Immunity. 2007 Dec;27(6):835-45. doi: 10.1016/j.immuni.2007.11.012.
Primary immunodeficiency diseases (PID) provide invaluable insight into immune system, notably in vivo immune responses to microorganisms as based on the variable vulnerability to pathogens and opportunistic agents. PID are also very informative in defining key checkpoints controlling immunity to self. Despite a Mendelian inheritance of most PID, mutations of a given gene can lead to a vast array of phenotypes as a function of the type of mutations, environmental factors, the occurrence of additional somatic mutations, or regulatory factors, which add considerable but hitherto underestimated complexity. Understanding the molecular pathophysiology of PID is not only contributing to a better knowledge of the immune system but may also favor new therapeutic approaches.
原发性免疫缺陷病（PID）为了解免疫系统提供了宝贵的见解，特别是基于对病原体和机会性致病原的易感性差异所呈现的体内对微生物的免疫反应。PID在定义控制自身免疫的关键检查点方面也具有重要意义。尽管大多数PID呈孟德尔遗传，但由于突变类型、环境因素、额外体细胞突变的发生或调节因子的作用，给定基因的突变可导致大量的表型，这增加了相当大但迄今被低估的复杂性。了解PID的分子病理生理学不仅有助于更好地认识免疫系统，还可能有助于开发新的治疗方法。
