Muir W A, Hedrick S, Alper C A, Ratnoff O D, Schacter B, Wisnieski J J
J Clin Invest. 1984 Oct;74(4):1509-14. doi: 10.1172/JCI111564.
We have studied a family in which the proband had systemic lupus erythematosus and selective incomplete deficiency of the fourth component of complement (C4) (2-5% of the normal level). An additional six healthy family members also had low C4 levels (2.4-24.1% of normal) but no evidence of lupus. This form of inherited C4 deficiency differs from that in previously reported families in that inheritance was autosomal dominant (rather than recessive), C4 levels were markedly reduced (but not undetectable), and there was no linkage to HLA, BF, or C4 structural loci, all known to be within the major histocompatibility complex.
我们研究了一个家系，其中先证者患有系统性红斑狼疮且补体第四成分（C4）选择性不完全缺乏（为正常水平的2 - 5%）。另外六名健康家庭成员的C4水平也较低（为正常水平的2.4 - 24.1%），但无狼疮迹象。这种遗传性C4缺乏形式与先前报道的家系不同，在于其遗传方式为常染色体显性遗传（而非隐性遗传），C4水平显著降低（但并非不可检测），且与HLA、BF或C4结构基因座无连锁关系，所有这些已知都位于主要组织相容性复合体内。
