Blattner W A, Strober W, Muchmore A V, Blaese R M, Broder S, Fraumeni J F
Ann Intern Med. 1976 May;84(5):554-7. doi: 10.7326/0003-4819-84-5-554.
Chronic lymphocytic leukemia developed in four of five siblings, whose father succumbed to the same disease. The pattern of immune deficiency in the leukemic siblings resembled that found in nonfamilial cases of chronic lymphocytic leukemia, and was correlated with the severity of clinical involvement. In three siblings the peripheral blood leukemic cells shared delta-heavy and kappa-light chains as the only detectable surface immunoglobulin, suggesting that on a cellular and molecular level the chronic lymphocytic leukemia in family members is identical. The fourth and youngest sibling had no peripheral blood lymphocytes with detectable surface immunoglobulin. An inherited defect in the class of cells destined to express delta-heavy and kappa-light chains appears to underlie susceptibility to leukemia in this family.
五名兄弟姐妹中有四人患上了慢性淋巴细胞白血病，他们的父亲也死于这种疾病。患白血病的兄弟姐妹的免疫缺陷模式与非家族性慢性淋巴细胞白血病患者相似，且与临床受累的严重程度相关。在三名兄弟姐妹中，外周血白血病细胞共有δ重链和κ轻链作为唯一可检测到的表面免疫球蛋白，这表明在细胞和分子水平上，家庭成员中的慢性淋巴细胞白血病是相同的。第四名也是最年幼的兄弟姐妹没有可检测到表面免疫球蛋白的外周血淋巴细胞。在这个家族中，注定要表达δ重链和κ轻链的细胞类别存在遗传性缺陷，这似乎是易患白血病的基础。
