The immune system is paradigmatic for a complex arrangement of heterogenous cells performing distinct, frequently temporally and anatomically dissociated, functions. Immune dysfunction is a common characteristic across most diseases and human genetic approaches have revealed that many disease risk loci are associated with expression profiles and counts of specific immune subsets. Furthermore, genetic regulators of immune function may only demonstrate activity in specific disease-linked contexts. Here we explore steps taken to dissect the genetic determinants of variation in immune response across cell counts and function, and the insights these have provided into human immunity.

中文翻译：

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剖析人类免疫反应变异的遗传决定因素。

免疫系统是异质细胞的复杂排列的范例，它们执行不同的、经常在时间和解剖学上分离的功能。免疫功能障碍是大多数疾病的共同特征，人类遗传方法表明，许多疾病风险位点与特定免疫亚群的表达谱和计数相关。此外，免疫功能的遗传调节剂可能只在特定的疾病相关环境中表现出活性。在这里，我们探索了分析细胞计数和功能中免疫反应变异的遗传决定因素所采取的步骤，以及这些为人类免疫提供的见解。