Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

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

doi:10.1056/NEJMoa0900381

Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

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

Department of Clinical Immunology

152 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 language	English
Journal	The New England journal of medicine
Volume	360
Issue number	25
Pages (from-to)	2637-44
Number of pages	8
ISSN	0028-4793
DOIs	https://doi.org/10.1056/NEJMoa0900381
Publication status	Published - 18 Jun 2009

Keywords

Adult
Brain Abscess/genetics
Complement Activation/genetics
Complement C4/immunology
Female
Frameshift Mutation
Glycoproteins/blood
Heterozygote
Homozygote
Humans
Immunologic Deficiency Syndromes/blood
Lectins/blood
Male
Respiratory Tract Infections/genetics
Statistics, Nonparametric
Warts/genetics

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10.1056/NEJMoa0900381

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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.",

keywords = "Adult, Brain Abscess/genetics, Complement Activation/genetics, Complement C4/immunology, Female, Frameshift Mutation, Glycoproteins/blood, Heterozygote, Homozygote, Humans, Immunologic Deficiency Syndromes/blood, Lectins/blood, Male, Respiratory Tract Infections/genetics, Statistics, Nonparametric, Warts/genetics",

author = "Lea Munthe-Fog and Tina Hummelsh{\o}j and Christian Honor{\'e} and Madsen, {Hans O} and Henrik Permin and Peter Garred",

note = "2009 Massachusetts Medical Society",

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doi = "10.1056/NEJMoa0900381",

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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 - 2009 Massachusetts Medical Society

PY - 2009/6/18

Y1 - 2009/6/18

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.

KW - Adult

KW - Brain Abscess/genetics

KW - Complement Activation/genetics

KW - Complement C4/immunology

KW - Female

KW - Frameshift Mutation

KW - Glycoproteins/blood

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Immunologic Deficiency Syndromes/blood

KW - Lectins/blood

KW - Male

KW - Respiratory Tract Infections/genetics

KW - Statistics, Nonparametric

KW - Warts/genetics

U2 - 10.1056/NEJMoa0900381

DO - 10.1056/NEJMoa0900381

M3 - Journal article

C2 - 19535802

SN - 0028-4793

VL - 360

SP - 2637

EP - 2644

JO - The New England journal of medicine

JF - The New England journal of medicine

IS - 25

ER -

Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency

Abstract

Keywords

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