Department of Infectious and Pediatric Immunology, Medical and Health Science Center, University of Debrecen, Hungary.
Ann N Y Acad Sci. 2011 Nov;1238:65-73. doi: 10.1111/j.1749-6632.2011.06247.x.
Primary immunodeficiencies (PIDs) have now become recognized as a worldwide health problem. Rapid development of immunological and genetic technologies has led to the discovery of more than 200 PIDs and more than 150 disease-related genes. Progress in the field is expected to take a new turn after the introduction of new-generation sequencing technologies that will enable searches for currently unknown PID-related genes. By contrast, even with progress in molecular genetics, many patients remain ill and die early because of the lack of diagnostic or treatment facilities, or both. Thus, the gap between the knowledge accumulated and the appropriate management of patients with PIDs in everyday clinical practice has widened, necessitating PID awareness, particularly in countries with poor socioeconomic conditions. The J Project, established as a physician education and research collaboration program in Eastern and Central Europe, demonstrates how professional responsibility and long-term joint efforts can make a beneficial difference for patients with inborn errors of immunity.
原发性免疫缺陷病(PID)现已被公认为全球性健康问题。免疫和遗传学技术的快速发展已经发现了 200 多种 PID 和 150 多种与疾病相关的基因。新一代测序技术的引入有望为目前未知的 PID 相关基因的搜索带来新的进展。相比之下,即使在分子遗传学方面取得了进展,由于缺乏诊断或治疗设施,或两者兼而有之,许多患者仍然病情严重并过早死亡。因此,在日常临床实践中,PID 患者的知识积累与适当管理之间的差距已经扩大,这就需要提高 PID 意识,特别是在社会经济条件较差的国家。作为东欧和中欧的医师教育和研究合作项目,J 项目展示了专业责任和长期共同努力如何为先天性免疫缺陷患者带来有益的改变。