Purtilo D T, DeFlorio D, Hutt L M, Bhawan J, Yang J P, Otto R, Edwards W
N Engl J Med. 1977 Nov 17;297(20):1077-80. doi: 10.1056/NEJM197711172972001.
Investigation of a family with cancer in boys revealed that at least 20 males had the X-linked recessive lymphoproliferative syndrome. A variety of phenotypes occurred: aproliferative phenotypes consisted of aplastic anemia, agranulocytosis or acquired hypogammaglobulinemia; and proliferative phenotypes of B cells included disorders associated with the Epstein-Barr virus, American Burkitt's lymphoma, immunoblastic sarcoma of B cells, fatal infectious mononucleosis or plasmacytoma. The lymphoproliferative disorders observed in males could have resulted from an immunodeficiency to Epstein-Barr virus. The variable phenotypic expression could have resulted from individual differences in the viral dose, duration of exposure and age at which the boys were exposed to the virus. Aproliferative phenotypes such as acquired hypogammaglobulinemia could have ensued from excessive suppressor-cell activity on B cells, whereas proliferative phenotypes such as Burkitt's lymphoma or fatal infectious mononucleosis could have resulted from infection by Epstein-Barr virus and failure to stop proliferation of B cells.
对一个男孩患癌家族的调查显示，至少有20名男性患有X连锁隐性淋巴细胞增生综合征。出现了多种表型：无增殖性表型包括再生障碍性贫血、粒细胞缺乏症或获得性低丙种球蛋白血症；B细胞的增殖性表型包括与爱泼斯坦-巴尔病毒相关的疾病、美国伯基特淋巴瘤、B细胞免疫母细胞肉瘤、致命传染性单核细胞增多症或浆细胞瘤。男性中观察到的淋巴细胞增生性疾病可能是由于对爱泼斯坦-巴尔病毒免疫缺陷所致。可变的表型表达可能是由于病毒剂量、接触持续时间以及男孩接触病毒时的年龄存在个体差异。获得性低丙种球蛋白血症等无增殖性表型可能是由于B细胞上抑制细胞活性过高所致，而伯基特淋巴瘤或致命传染性单核细胞增多症等增殖性表型可能是由于爱泼斯坦-巴尔病毒感染以及未能阻止B细胞增殖所致。
