Laboratory Medicine ›› 2015, Vol. 30 ›› Issue (2): 195-200.DOI: 10.3969/j.issn.1673-8640.2015.02.022
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LI Shengjie, ZHANG Aiping, CAO Wenjun
Received:
2014-07-31
Online:
2015-02-28
Published:
2015-02-12
CLC Number:
LI Shengjie, ZHANG Aiping, CAO Wenjun. Complement deficiency and its associated diseases[J]. Laboratory Medicine, 2015, 30(2): 195-200.
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URL: https://www.shjyyx.com/EN/10.3969/j.issn.1673-8640.2015.02.022
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 |
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