Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
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Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P
Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.
N Engl J Med. 2009 Jun 18;360(25):2637-44. doi: 10.1056/NEJMoa0900381.
- PubMed ID
- 19535802 [ View in PubMed]
- 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.