Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.
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DOI：
10.1186/1750-1172-7-42
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发表时间：
2012-06-18
影响因子：
3.7
通讯作者：
López-Trascasa M
中科院分区：
文献类型：
--
作者：
Alba-Domínguez M;López-Lera A;Garrido S;Nozal P;González-Granado I;Melero J;Soler-Palacín P;Cámara C;López-Trascasa M
补体因子I（CFI）是一种丝氨酸蛋白酶，在补体旁路途径调节中具有重要作用。因子I完全缺乏与严重感染密切相关。全世界大约有30个家庭患有这种缺陷。我们研究了五个新的西班牙家庭患有CFI缺乏症。从19个筛选的人中，7个纯合子，10个杂合子和2个健康受试者被确定。包括临床、生化和遗传描述。分子研究表明，在筛选的个人4个新的突变，其中，我们在这里描述的第一个伟大的基因缺失报告的CFI基因座，其中包括完整的外显子2和大内含子1的一部分。CFI缺陷可能是一种被低估的缺陷，这种缺陷的最终存在应在表现出低C3和复发性细菌感染的患者中进行测试。我们提出了一个简单的诊断流程图，以帮助临床医生在识别和正确诊断这样的病人。
Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. We have studied five new Spanish families suffering from CFI deficiency. From 19 screened people, 7 homozygous, 10 heterozygous and 2 healthy subjects were identified. Clinical, biochemical and genetic descriptions are included. Molecular studies demonstrated 4 novel mutations in the screened individuals; amongst them, we describe here the first great gene deletion reported in the CFI locus, which includes full exon 2 and part of the large intron 1. CFI deficiency is possibly an underestimated defect and the eventual existence of this deficiency should be tested in those patients exhibiting low C3 and recurrent bacterial infections. We propose a simple diagnostic flowchart to help clinicians in the identification and correct diagnosis of such patients.