Munthe-Fog Lea, Hummelshøj Tina, Honoré Christian, Madsen Hans O, Permin Henrik, Garred Peter
Laboratory of Molecular Medicine, Department of Clinical Immunology, Sect-7631, Rigshospitalet, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.
N Engl J Med. 2009 Jun 18;360(25):2637-44. doi: 10.1056/NEJMoa0900381.
Ficolin-3, encoded by the FCN3 gene and expressed in the lung and liver, is a recognition molecule in the lectin pathway of the complement system. Heterozygosity for an FCN3 frameshift mutation (rs28357092), leading to a distortion of the C-terminal end of the molecule, occurs in people without disease (allele frequency among whites, 0.01). We describe a patient with recurrent infections who was homozygous for this mutation, who had undetectable serum levels of ficolin-3, and who had a deficiency in ficolin-3-dependent complement activation.
由FCN3基因编码并在肺和肝脏中表达的纤维胶凝蛋白-3是补体系统凝集素途径中的一种识别分子。FCN3移码突变（rs28357092）导致分子C末端扭曲，在无疾病人群中存在杂合性（白人中的等位基因频率为0.01）。我们描述了一名患有复发性感染的患者，该患者为该突变的纯合子，血清中纤维胶凝蛋白-3水平检测不到，且存在纤维胶凝蛋白-3依赖性补体激活缺陷。
