Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

Lea Munthe-Fog, Tina Hummelshøj, Christian Honoré, Hans O Madsen, Henrik Permin, Peter Garred

    122 Citations (Scopus)

    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 languageEnglish
    JournalNew England Journal of Medicine
    Volume360
    Issue number25
    Pages (from-to)2637-44
    Number of pages8
    ISSN0028-4793
    DOIs
    Publication statusPublished - 2009

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