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.
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From the Laboratory of Molecular Medicine, Department of Clinical Immunology, Sect-7631, Rigshospitalet, University of Copenhagen, Faculty of Health Sciences (L.M.-F., T.H., C.H., H.O.M., P.G.), and the Department of Lung Disease L, Bispebjerg Hospital (H.P.) — both in Copenhagen.
Ms. Munthe-Fog, Dr. Hummelshøj, and Mr. Honoré contributed equally to this article.
Address reprint requests to Dr. Garred at the Department of Clinical Immunology, Sect-7631, Rigshospitalet, Blegdamsvej 9, 2100 Copenhagen O, Denmark, or at garred{at}post5.tele.dk.
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