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多例系统性红斑狼疮患者家庭中自身抗体的多样性及遗传模式。

Diversity and pattern of inheritance of autoantibodies in families with multiple cases of systemic lupus erythematosus.

作者信息

Shoenfeld Y, Slor H, Shafrir S, Krause I, Granados J, Villarreal G M, Alarcón-Segovia D

机构信息

Department of Medicine B, Sheba Medical Center, Tel-Hashomer, Israel.

出版信息

Ann Rheum Dis. 1992 May;51(5):611-8. doi: 10.1136/ard.51.5.611.

Abstract

The pattern of inheritance of autoantibodies in eight families chosen from a pool of 110 families of patients with systemic lupus erythematosus (SLE) is described. In all the eight families at least two members were already affected by SLE. In total, 19 patients and 43 first degree relatives were examined. The inheritance of a large set of antinuclear antibodies (for example, DNA, Sm, RNP, Ro, La, histones) and 16/6 idiotype seemed to be related to some unknown genetic factors but not related to HLA. The presence of numerous antinuclear autoantibodies in the serum of a subject was not necessarily associated with overt disease. The incidence of the 16/6 idiotype among patients and their relatives was low. It is not yet clear whether the 'autoantibody burden' is greater in families with multiple cases of SLE than in families with single cases.

摘要

本文描述了从110个系统性红斑狼疮(SLE)患者家庭中挑选出的8个家庭自身抗体的遗传模式。在这8个家庭中,至少有两名成员已患有SLE。总共对19名患者和43名一级亲属进行了检查。大量抗核抗体(如DNA、Sm、RNP、Ro、La、组蛋白)和16/6独特型的遗传似乎与一些未知的遗传因素有关,但与HLA无关。受试者血清中存在大量抗核自身抗体不一定与显性疾病相关。患者及其亲属中16/6独特型的发生率较低。目前尚不清楚SLE多病例家庭中的“自身抗体负荷”是否比单病例家庭更大。

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