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一个患有纯合子C2缺乏症和盘状红斑狼疮的家族中的HLA基因型。

HLA genotypes in a family with a case of homozygous C2 deficiency and discoid lupus erythematosus.

作者信息

Braathen L R, Bratlie A, Teisberg P

出版信息

Acta Derm Venereol. 1986;66(5):419-22.

PMID:2431580
Abstract

A fifty-year-old man with a history of recurrent bronchial and renal infections, and rheumatoid arthritis was admitted with a sunexposure-induced discoid lupus erythematosus. Complement levels and HLA typing of the patient and his family revealed a homozygous C2 deficiency in the patient and his HLA-identical healthy younger sister. The C2 deficiency gene was associated with HLA-A10, B18, DR2, C4A4B2, BfS on one chromosome and with HLA-A2, B7, DR2, C4A4B2, BfS on the other.

摘要

一名50岁男性,有复发性支气管和肾脏感染病史以及类风湿性关节炎,因日晒诱发的盘状红斑狼疮入院。对该患者及其家族进行补体水平检测和HLA分型,结果显示患者及其HLA相同的健康妹妹均为纯合子C2缺陷。C2缺陷基因在一条染色体上与HLA-A10、B18、DR2、C4A4B2、BfS相关联,在另一条染色体上与HLA-A2、B7、DR2、C4A4B2、BfS相关联。

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