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.
Original language | English |
---|---|
Journal | New England Journal of Medicine |
Volume | 360 |
Issue number | 25 |
Pages (from-to) | 2637-44 |
Number of pages | 8 |
ISSN | 0028-4793 |
DOIs | |
Publication status | Published - 2009 |