一个家族中的华氏巨球蛋白血症与自身免疫性疾病

Waldenström's macroglobulinemia and autoimmune disease in a family.

作者信息

Blattner W A, Garber J E, Mann D L, McKeen E A, Henson R, McGuire D B, Fisher W B, Bauman A W, Goldin L R, Fraumeni J F

出版信息

Ann Intern Med. 1980 Dec;93(6):830-2. doi: 10.7326/0003-4819-93-6-830.

Abstract

We diagnosed Waldenström's macroglobulinemia in a father and three offspring. Clinical and subclinical autoimmune disorders occurred excessively in the family. The HLA haplotype A2, B8, DRw3 was detected in all patients with Waldenström's macroglobulinemia and all but one family member with autoimmune manifestations. A lod score [log odds] of 4.86 favors linkage to the HLA complex of a gene predisposing to lymphoproliferative and autoimmune disorders. Associated with this HLA haplotype were the B-cell alloantigens Ia-172 and 350, previously reported in patients with the lymphoma-prone sicca syndrome.

摘要

我们在一位父亲及其三个子女中诊断出了华氏巨球蛋白血症。该家族中临床和亚临床自身免疫性疾病的发生极为频繁。在所有华氏巨球蛋白血症患者以及除一名有自身免疫表现的家庭成员外的其他所有家庭成员中，均检测到了HLA单倍型A2、B8、DRw3。对数计分（lod score）为4.86支持与一个易导致淋巴增殖性和自身免疫性疾病的基因的HLA复合体存在连锁关系。与这种HLA单倍型相关的是B细胞同种异体抗原Ia - 172和350，此前在易患淋巴瘤的干燥综合征患者中已有报道。