原发性免疫缺陷病(primary immunodeficiency diseases,PID)是以免疫系统细胞或其构成成分的数量或质量缺陷,以致易发生各种感染为突出特征的少见疾病。在不同基因调控下,干细胞经历系列的、非连续性发育阶段,最终分化为各种成熟的免疫活性细胞。这些调控基因的突变/缺失会导致相应细胞系分化受阻(图1),导致大多数免疫缺陷(有些免疫缺陷并非这一途径障碍,如补体缺陷)。迄今为止,已发现150多种不同类型的免疫缺陷,且大多数缺陷的遗传基础已清楚。 Primary immunodeficiency diseases (PID) are rare diseases characterized by the quantity or quality defects of the cells or components of the immune system that are prone to various infections. Under different gene regulation, stem cells undergo a series of non-contiguous developmental stages and eventually differentiate into various mature immunocompetent cells. Mutations / deletions of these regulatory genes result in blockage of the corresponding cell lineages (FIG. 1), resulting in most immunodeficiency (some immunodeficiency is not an obstacle to this pathway, such as complement defects). To date, more than 150 different types of immunodeficiency have been discovered and the genetic basis for most of the defects has been clear.