Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens.
Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens.
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补体第四成分 (C4) 的遗传性不完全缺乏，由与人类组织相容性白细胞抗原无关的基因决定。
DOI：
10.1172/jci111564
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发表时间：
1984
期刊：
影响因子：
--
通讯作者：
Wisnieski,JJ
中科院分区：
文献类型：
--
作者：
Muir,WA;Hedrick,S;Alper,CA;Ratnoff,OD;Schacter,B;Wisnieski,JJ
我们研究了一个先证者患有系统性红斑狼疮和选择性补体第四成分(C4)不完全缺乏(正常水平的2-5%)的家系。另外6名健康的家庭成员也有低C4水平(正常的2.4-24.1%)，但没有狼疮的证据。这种形式的遗传性C4缺乏症与以前报道的家系不同，遗传是常染色体显性的(而不是隐性的)，C4水平显著降低(但不是无法检测到)，并且没有与人类白细胞抗原、BF或C4结构基因座的连锁，所有这些已知都在主要组织相容性复合体内。
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.