Buckley R H
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
Pediatr Clin North Am. 1994 Aug;41(4):665-90. doi: 10.1016/s0031-3955(16)38803-4.
In the 40 years since Ogden Bruton discovered agammaglobulinemia, more than 50 additional immunodeficiency syndromes have been described. Until recently, there was little insight into the fundamental problems underlying a majority of these conditions. Recently, however, the molecular bases of three X-linked immunodeficiency disorders have been reported. These include X-linked immunodeficiency with hyper IgM, X-linked agammaglobulinemia, and X-linked severe combined immunodeficiency. These remarkable accomplishments have been made possible through a combination of new knowledge of molecular signaling mechanisms between and within cells of the immune system and greatly improved approaches to disease loci mapping within the human genome. Improvements in the therapy of immunodeficiency diseases have been impressive, and the development of generally safe and effective intravenous immunoglobulin preparations and T cell depletion techniques that permit the use of non-HLA-identical bone marrow donors have been the most important advances over the past 14 years. The identification and cloning of the genes for several of the primary immunodeficiency diseases have obvious implications for potential future somatic cell gene therapy for these patients. The rapidity of these advances suggests that soon there will be many more to come.
自奥格登·布鲁顿发现无丙种球蛋白血症以来的40年里，又有50多种免疫缺陷综合征被描述。直到最近，对于大多数此类病症的根本问题仍知之甚少。然而，最近已经报道了三种X连锁免疫缺陷疾病的分子基础。这些疾病包括X连锁高IgM免疫缺陷、X连锁无丙种球蛋白血症和X连锁严重联合免疫缺陷。通过免疫系统细胞之间和细胞内分子信号传导机制的新知识与人类基因组内疾病基因座定位方法的极大改进相结合，才取得了这些显著成就。免疫缺陷疾病治疗方面的进展令人瞩目，过去14年里最重要的进展是开发出了普遍安全有效的静脉注射免疫球蛋白制剂以及允许使用非HLA匹配骨髓供体的T细胞清除技术。几种原发性免疫缺陷疾病基因的鉴定和克隆对这些患者未来可能的体细胞基因治疗具有明显意义。这些进展的速度表明，很快还会有更多进展出现。
