补体缺陷及其疾病

doi:10.3969/j.issn.1673-8640.2015.02.022

摘要/Abstract

摘要：

补体系统作为机体重要的免疫效应及其链式放大系统,是连接固有免疫和适应性免疫的重要桥梁,同时作为机体免疫调控网络的重要环节,在维持机体免疫自稳方面发挥重要作用。有文献已报道补体系统中有多种成分缺陷及补体的数量和质量存在异常的个体通常对某些疾病的易感性增加或直接导致相关疾病的发生,该文对目前常见的补体缺陷及其参与相关疾病发病机制的研究进展作一综述,期望为疾病的实验诊断提供新的思路。

关键词: 补体, 补体缺陷, 感染性疾病, 自身免疫性疾病

Abstract:

Complement system, which has the characteristics of crucial immune responses and cascade reactions, not only has a crucial role in acting as a bridge between innate and adaptive immunities, but also is a part of immune regulatory network, and has important significance in the preservation of immunological homeostasis. Early studies introduced complement component deficiency. The abnormal quality and quantity of complement suggest that complement deficiency is associated with an increasing prevalence of infections and autoimmune diseases. This paper reviews the current common complement deficiencies and their associated diseases, expecting to provide new thoughts for the laboratory diagnosis of diseases.

Key words: Complement, Complement deficiency, Infectious disease, Autoimmune disease

中图分类号:

R446.62

李圣杰, 张爱平综述, 曹文俊审校. 补体缺陷及其疾病[J]. 检验医学, 2015, 30(2): 195-200.

LI Shengjie, ZHANG Aiping, CAO Wenjun. Complement deficiency and its associated diseases[J]. Laboratory Medicine, 2015, 30(2): 195-200.

图/表 2

参考文献 33

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蛋白	突变类型或作用	易感疾病及病原体	其他相关疾病
C1q	AR	败血症、脑膜炎、肺炎;肺炎链球菌(s)、脑膜炎奈瑟菌	SLE/SLE样综合征
MBL	未知	感染主要发生于伴或不伴原发或继发性免疫缺陷的患儿	心血管疾病
H-ficolin	AR;等位基因频率为0.01的移码突变	呼吸道感染、脑脓肿;链球菌、流感嗜血杆菌、铜绿假单胞菌	血小板减少症
C1r/s	AR	荚膜菌所致的败血症、脑膜炎、肺炎	超过60%病例中出现SLE/SLE样综合征
MASP	AR,高加索人群SNP D120G等位基因频率为1%~3%	复发性呼吸道感染	自身免疫、炎症症状
C2	AR	败血症、肺炎、脑膜炎、变形性骨炎	SLE样综合征
D 因子	AR	奈瑟菌感染	—
I因子	AR	化脓菌感染、肾小球肾炎	SLE样综合征
C3	AR	呼吸道感染、脑膜炎、肺炎;流感嗜血杆菌、金黄色葡萄球菌	免疫复合物疾病、肾小球肾炎、血管炎、关节痛、AMD
C4	AR	败血症、脑膜炎及由荚膜菌引起的肺炎	超过80%病例中出现SLE/SLE样综合征;肾小球肾炎
C5	AR	由奈瑟菌引起的脑膜炎、败血症	AMD
C6、C7、 C8、C9	AR	由奈瑟菌引起的脑膜炎、败血症	—
H因子	AR	复发性化脓性感染、脑膜炎;流感嗜血杆菌	MPGN膜增生性肾小球肾炎、aHUS、AMD
Properdn	X连锁隐性	奈瑟菌引起脑膜炎、败血症	—
C1INH	AD;已报道有> 200个突变位点,其中25%是新生突变	—	HAE
CD55/CD59	PIG-A体细胞突变导致GPI锚定蛋白低表达或缺陷	与血细胞减少症相关的感染	血栓、血细胞减少症、PNH
CD46(MCP)	I因子辅因子	—	aHUS
TM	加速I因子介导的C3b失活	—	aHUS、脑血栓

蛋白	突变类型或作用	易感疾病及病原体	其他相关疾病
C1q	AR	败血症、脑膜炎、肺炎;肺炎链球菌(s)、脑膜炎奈瑟菌	SLE/SLE样综合征
MBL	未知	感染主要发生于伴或不伴原发或继发性免疫缺陷的患儿	心血管疾病
H-ficolin	AR;等位基因频率为0.01的移码突变	呼吸道感染、脑脓肿;链球菌、流感嗜血杆菌、铜绿假单胞菌	血小板减少症
C1r/s	AR	荚膜菌所致的败血症、脑膜炎、肺炎	超过60%病例中出现SLE/SLE样综合征
MASP	AR,高加索人群SNP D120G等位基因频率为1%~3%	复发性呼吸道感染	自身免疫、炎症症状
C2	AR	败血症、肺炎、脑膜炎、变形性骨炎	SLE样综合征
D 因子	AR	奈瑟菌感染	—
I因子	AR	化脓菌感染、肾小球肾炎	SLE样综合征
C3	AR	呼吸道感染、脑膜炎、肺炎;流感嗜血杆菌、金黄色葡萄球菌	免疫复合物疾病、肾小球肾炎、血管炎、关节痛、AMD
C4	AR	败血症、脑膜炎及由荚膜菌引起的肺炎	超过80%病例中出现SLE/SLE样综合征;肾小球肾炎
C5	AR	由奈瑟菌引起的脑膜炎、败血症	AMD
C6、C7、 C8、C9	AR	由奈瑟菌引起的脑膜炎、败血症	—
H因子	AR	复发性化脓性感染、脑膜炎;流感嗜血杆菌	MPGN膜增生性肾小球肾炎、aHUS、AMD
Properdn	X连锁隐性	奈瑟菌引起脑膜炎、败血症	—
C1INH	AD;已报道有> 200个突变位点,其中25%是新生突变	—	HAE
CD55/CD59	PIG-A体细胞突变导致GPI锚定蛋白低表达或缺陷	与血细胞减少症相关的感染	血栓、血细胞减少症、PNH
CD46(MCP)	I因子辅因子	—	aHUS
TM	加速I因子介导的C3b失活	—	aHUS、脑血栓