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Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency.

Authors
  • Munthe-Fog, Lea
  • Hummelshøj, Tina
  • Honoré, Christian
  • Madsen, Hans O
  • Permin, Henrik
  • Garred, Peter
Type
Published Article
Journal
New England Journal of Medicine
Publisher
New England Journal of Medicine
Publication Date
Jun 18, 2009
Volume
360
Issue
25
Pages
2637–2644
Identifiers
DOI: 10.1056/NEJMoa0900381
PMID: 19535802
Source
Medline
License
Unknown

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.

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