Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. / Munthe-Fog, Lea; Hummelshøj, Tina; Honoré, Christian; Madsen, Hans O; Permin, Henrik; Garred, Peter.

In: New England Journal of Medicine, Vol. 360, No. 25, 2009, p. 2637-44.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Munthe-Fog, L, Hummelshøj, T, Honoré, C, Madsen, HO, Permin, H & Garred, P 2009, 'Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency', New England Journal of Medicine, vol. 360, no. 25, pp. 2637-44. https://doi.org/10.1056/NEJMoa0900381

APA

Munthe-Fog, L., Hummelshøj, T., Honoré, C., Madsen, H. O., Permin, H., & Garred, P. (2009). Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. New England Journal of Medicine, 360(25), 2637-44. https://doi.org/10.1056/NEJMoa0900381

Vancouver

Munthe-Fog L, Hummelshøj T, Honoré C, Madsen HO, Permin H, Garred P. Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. New England Journal of Medicine. 2009;360(25):2637-44. https://doi.org/10.1056/NEJMoa0900381

Author

Munthe-Fog, Lea ; Hummelshøj, Tina ; Honoré, Christian ; Madsen, Hans O ; Permin, Henrik ; Garred, Peter. / Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. In: New England Journal of Medicine. 2009 ; Vol. 360, No. 25. pp. 2637-44.

Bibtex

@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",

}

RIS

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