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• W1988351744 abstract "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." @default.
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• W1988351744 date "2009-06-18" @default.
• W1988351744 modified "2023-09-25" @default.
• W1988351744 title "Immunodeficiency Associated with<i>FCN3</i>Mutation and Ficolin-3 Deficiency" @default.
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• W1988351744 doi "https://doi.org/10.1056/nejmoa0900381" @default.
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