Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency
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Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. / Munthe-Fog, Lea; Hummelshøj, Tina; Honoré, Christian; Madsen, Hans O; Permin, Henrik; Garred, Peter.
I: New England Journal of Medicine, Bind 360, Nr. 25, 2009, s. 2637-44.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency
AU - Munthe-Fog, Lea
AU - Hummelshøj, Tina
AU - Honoré, Christian
AU - Madsen, Hans O
AU - Permin, Henrik
AU - Garred, Peter
N1 - 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
PY - 2009
Y1 - 2009
N2 - 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.
AB - 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.
U2 - 10.1056/NEJMoa0900381
DO - 10.1056/NEJMoa0900381
M3 - Journal article
C2 - 19535802
VL - 360
SP - 2637
EP - 2644
JO - New England Journal of Medicine
JF - New England Journal of Medicine
SN - 0028-4793
IS - 25
ER -
ID: 19440249