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Immunodeficiency Associated with <i>FCN3</i> Mutation and Ficolin-3 Deficiency

17 Jun 2009

Abstract excerpt

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...

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PMID: 19535802
DOI: 10.1056/nejmoa0900381

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