@article{f60b3bc0537311df928f000ea68e967b,
title = "Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency",
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.",
author = "Lea Munthe-Fog and Tina Hummelsh{\o}j and Christian Honor{\'e} and Madsen, {Hans O} and Henrik Permin and Peter Garred",
note = "Keywords: Adult; Brain Abscess; Complement Activation; Complement C4; Female; Frameshift Mutation; Glycoproteins; Heterozygote; Homozygote; Humans; Immunologic Deficiency Syndromes; Lectins; Male; Respiratory Tract Infections; Statistics, Nonparametric; Warts",
year = "2009",
doi = "10.1056/NEJMoa0900381",
language = "English",
volume = "360",
pages = "2637--44",
journal = "New England Journal of Medicine",
issn = "0028-4793",
publisher = "Massachusetts Medical Society",
number = "25",
}