本文通过研究4例着色性干皮病(Xeroderma Pigmentosum,XP)患者免疫功能的变化,及DNA修复缺陷对免疫功能的影响,对先天性DNA修复缺陷与免疫功能异常及肿瘤发生三者之间的关系进行了探讨。 实验结果表明:XP患者α干扰素产生能力低下。2/4患者的补体活性(CH_(50))及补体C_3含量减低。血清蛋白有不同程度的紊乱,尤以α球蛋白增高为著。总玫瑰花及活性玫瑰花形成率显著减少。PHA刺激的淋巴母细胞转化反应(以下简称“淋转”)非常显著地降低。3/4患者OT试验阴性,3/3患者DNCB反应阴性。ANAE活性细胞无明显变化。T_γ响T_μ细胞的比例有不同程度改变。T_γ与T_μ细胞呈显著负相关。T_γ细胞与IgG、IgA呈显著负相关,T_μ细胞与IgA呈非常显著正相关,T_μ/T_γ比值与IgG、IgA亦有显著正相关。Sm Ig阳性细胞百分率属正常范围。3/4患者免疫球蛋白含量无明显异常。自身抗体和循环免疫复合物均未检出。经不同剂量紫外线照射后,XP患者的淋转及α干扰素产生能力的下降幅度非常显著地大于正常人,下降幅度因XP患者的DNA修复缺陷程度不同而有差异,DNA修复缺陷严重的患者,其下降幅度更明显。 本研究表明,XP患者免疫功能变化主要表现为T细胞系统功能及α干扰素产生能力降低,DNA修复缺陷可影响免疫功能,这可能是XP患者癌肿发生率 In this paper, four cases of Xeroderma Pigmentosum (XP) patients with immune function changes, and DNA repair defects on immune function, congenital DNA repair defects and immune dysfunction and tumor occurrence between the three The relationship was explored. The experimental results show that: XP patients with low alpha interferon production capacity. 2/4 patients with complement activity (CH_ (50)) and complement C_3 content decreased. Serum proteins have varying degrees of disorder, especially in the increase of α-globulin. The total rosette and active rosette formation rate was significantly reduced. PHA-stimulated lymphoblast transformation (hereinafter “lymph node metastasis”) is significantly reduced. Three-quarters of patients had negative OT and three of three had negative DNCB. ANAE activated cells showed no significant change. T_γ ring T_μ cell ratio has varying degrees of change. T_γ and T_μ cells was significantly negatively correlated. There was a significant negative correlation between T_γ cells and IgG and IgA. There was a significant positive correlation between T_μ cells and IgA. There was also a significant positive correlation between T_μ / T_γ and IgG and IgA. The percentage of Sm Ig positive cells is in the normal range. 3/4 patients with no significant abnormalities in immunoglobulin content. No autoantibodies and circulating immune complexes were detected. After different doses of UV irradiation, the extent of lymph node metastasis and IFN-α production in XP patients decreased significantly more than that in normal subjects. The decrease was due to the different degree of DNA repair defects in XP patients. In patients with severe DNA repair defects, Its decline is more obvious. This study shows that, XP patients with immune changes mainly manifested as T cell system function and alpha interferon production capacity decreased, DNA repair defects can affect immune function, which may be XP patients with cancer incidence