Seemayer T A, Gross T G, Egeler R M, Pirruccello S J, Davis J R, Kelly C M, Okano M, Lanyi A, Sumegi J
Department of Pathology, University of Nebraska Medical Center, Omaha 68198-3135, USA.
Pediatr Res. 1995 Oct;38(4):471-8. doi: 10.1203/00006450-199510000-00001.
The X-linked lymphoproliferative disease (XLP), one of six described X-linked immunodeficiencies, stems from a mutation at Xq25 which renders males impotent to mount an effective immune response to the ubiquitous EBV. Purtilo, who first observed this disease in 1969, established a Registry in 1980 to serve as a worldwide resource for the diagnosis, treatment, and research of this condition. Since Purtilo's death in late 1992, the Registry and research unit have not only continued to function as a worldwide consultative service, but have contributed the following. First, the number of affected boys has continued to grow; some 272 among 80 kindreds have been identified. Second, some boys (10%) who inherit the mutated XLP gene are immunologically abnormal even before evidence of EBV exposure. Third, the search for the XLP gene has been narrowed to a small region on Xq25. Its identification is near at hand; once cloned, this gene may well illustrate how the body orchestrates the complex immune response to EBV. Therein lies the justification for the quest for this gene, not only for the benefit of the few surviving boys and those to be born to female carriers, but also for defining its role in defending the body against a ubiquitous DNA virus.
X连锁淋巴增殖性疾病（XLP）是六种已描述的X连锁免疫缺陷病之一，源于Xq25处的突变，该突变使男性无法对普遍存在的EB病毒产生有效的免疫反应。普尔蒂洛于1969年首次观察到这种疾病，并于1980年建立了一个登记处，作为全球范围内诊断、治疗和研究这种疾病的资源。自1992年末普尔蒂洛去世以来，该登记处和研究单位不仅继续作为全球咨询服务机构发挥作用，还做出了以下贡献。首先，受影响男孩的数量持续增加；已在80个家族中确定了约272名患者。其次，一些继承了突变XLP基因的男孩（10%）在出现EB病毒感染迹象之前就存在免疫异常。第三，对XLP基因的搜索范围已缩小到Xq25上的一个小区域。其鉴定即将完成；一旦克隆成功，该基因很可能会阐明身体如何协调对EB病毒的复杂免疫反应。寻找该基因的理由就在于此，这不仅是为了少数幸存男孩和女性携带者未来所生孩子的利益，也是为了确定其在保护身体抵御这种普遍存在的DNA病毒方面的作用。
