摘要
原发性免疫缺陷性疾病多因免疫系统的细胞发育、成熟过程中出现基因缺陷所致。这些疾病会使患者易患以特异免疫缺陷为特征的感染。这类疾病可划分为细胞和体液免疫缺陷、主要的抗体缺陷、吞噬功能缺陷、补体缺陷和其他类型的缺陷等（表1）。早期诊断和治疗对于改善患者预后预防残疾很重要，因为许多此类疾病是可治疗的。
Primary immunodeficiency diseases result from genetic defects in the development and maturation of cells of the immune system. They lead to an increased susceptibility to infections, which are usually characteristic of the specific immune defect. They are classified into combined cellular and antibody deficiencies, predominant antibody deficiencies, phagocytic deficiencies, complement deficiencies and miscellaneous disorders （Figure 1）. Early diagnosis and treatment are essential for the prevention of devastating consequences, because many of the conditions are treatable.
