原发性免疫缺陷病患儿感染的治疗

Treatment of infections in patients with primary immunodeficiency disease

原发性免疫缺陷病（primary immunodeficiency disease，PID）是指因遗传因素致免疫活性细胞和免疫活性分子发生缺陷引起的免疫反应缺如或降低，导致机体对多种病原体易感性显著增高的一组疾病。反复、难治性的感染是PID患儿的显著特征。早期诊断，规范的免疫球蛋白替代治疗和抗感染治疗，造血干细胞移植和基因治疗及遗传咨询、产前诊断是预防和治疗PID患儿感染的主要手段。此外，尚须加强基层医生培训，提高公众对PID的认知能力，加强多中心的分工和合作，努力提高我国PID的诊断治疗水平，最大限度挽救PID患儿的生命。

Primary immunodeficiency disease （PID） is a heterogeneous group of congenital disorders of the immune system. The impaired immune response is caused by defect of immune active ceils and moleculars, which results in increased susceptibility to pathogens. Recurrent infection is the predominant presenting complaint for patients with PID. Early diagnosis, immunoglobulin replacement therapy, antimicrobial treatment, haematopoietic stem cell transplantation and gene therapy, genetic conselling and prenatal diagnosis will help to prevent and control infections in patients with PID. In addition, we should strengthen the education of paediatricians,improve awareness about PID and collaboration across different centers to advance the diagnosis and management of PID in China and save the life of patients at the maximum limit.