1免疫缺陷病原发性免疫缺陷病(PID)的临床筛查工作已在我国部分地区开展,但全国范围内新发病例仍很少,提示儿科医师尚应加强警觉,逐步在相对发达地区基层医院建立免疫缺陷病初筛手段。PID是免疫学研究的天然模型,疾病相关基因的突变与表现型的关系对阐明靶基因的功能十分重要。 1 Immunodeficiency disease The clinical screening of essential immunodeficiency disease (PID) has been carried out in some areas of our country, but new cases are still rare throughout the country, suggesting that pediatricians should be vigilant, and gradually in the relatively developed areas grass-roots level Hospital establishment of immunodeficiency disease screening means. PID is a natural model for immunological research and the relationship between mutations and phenotypes in disease-related genes is important for clarifying the function of target genes.