Buckley Rebecca H
Duke University School of Medicine, Durham, NC 27710, USA.
Immunol Rev. 2002 Jul;185:206-19. doi: 10.1034/j.1600-065x.2002.18517.x.
The past 50 years have seen enormous progress in this field. An unknown concept until 1952, there are now more than 100 different primary immunodeficiency syndromes in the world's literature. Each novel syndrome has shed new insight into the workings of the immune system, dissecting its multiple parts into unique functioning components. This has been especially true over the past decade, as the molecular bases of approximately 40 of these diseases have been identified in rapid succession. Advances in the treatment of these diseases have also been impressive. Antibody replacement has been improved greatly by the development of human immunoglobulin preparations that can be safely administered by the intravenous route, and cytokine and humanized anticytokine therapies are now possible through recombinant technologies. The ability to achieve life-saving immune reconstitution of patients with lethal severe combined immunodeficiency by administering rigorously T-cell-depleted allogeneic related haploidentical bone marrow stem cells has extended this option to virtually all such infants, if diagnosed before untreatable infections develop. Finally, the past 3 years have witnessed the first truly successful gene therapy. The impressive results in X-linked severe combined immunodeficiency offer hope that this approach can be extended to many more diseases in the future.
在过去的50年里，该领域取得了巨大进展。1952年以前还是一个未知概念，如今世界文献中记载的原发性免疫缺陷综合征已超过100种。每一种新发现的综合征都为免疫系统的运作带来了新的见解，将其多个部分分解为独特的功能组件。在过去十年中尤其如此，因为其中约40种疾病的分子基础已相继迅速得到确认。这些疾病的治疗进展也令人瞩目。通过开发可经静脉安全给药的人免疫球蛋白制剂，抗体替代疗法有了很大改进，并且通过重组技术，细胞因子和人源化抗细胞因子疗法如今也成为可能。对于患有致命性重症联合免疫缺陷的患者，通过输注经过严格T细胞去除的同种异体相关单倍体相合骨髓干细胞来实现挽救生命的免疫重建，这一方法已将此选择扩展到几乎所有此类婴儿，前提是在不可治疗的感染发生之前做出诊断。最后，在过去三年中见证了首次真正成功的基因治疗。X连锁重症联合免疫缺陷所取得的令人瞩目的结果给人们带来了希望，即这种方法在未来能够扩展到更多疾病。
