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.
authors.affiliation: Laboratory of Molecular Medicine, Department of Clinical Immunology, Sect-7631, Rigshospitalet, University of Copenhagen, Faculty of Health Sciences, Copenhagen, Denmark.
authors.forename: Lea
authors.initials: L
authors.lastname: Munthe-Fog
authors.forename: Tina
authors.initials: T
authors.lastname: Hummelshøj
authors.forename: Christian
authors.initials: C
authors.lastname: Honoré
authors.forename: Hans O
authors.initials: HO
authors.lastname: Madsen
authors.forename: Henrik
authors.initials: H
authors.lastname: Permin
authors.forename: Peter
authors.initials: P
authors.lastname: Garred
mesh_terms: D000328:Adult; D001922:Brain Abscess / Q000235:genetics; D003167:Complement Activation / Q000235:genetics; D003181:Complement C4 / Q000276:immunology; D005260:Female; D016368:Frameshift Mutation; D006023:Glycoproteins / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000097:blood / Q000235:genetics*; D037102:Lectins / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D012141:Respiratory Tract Infections / Q000235:genetics*; D018709:Statistics, Nonparametric; D014860:Warts / Q000235:genetics
chemical_list: D003181:Complement C4; C109662:FCN3 protein, human; D006023:Glycoproteins; D037102:Lectins