Journal article
Ficolin-3 Deficiency Is Associated with Disease and an Increased Risk of Systemic Lupus Erythematosus.
- Troldborg A Department of Rheumatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, 8200, Aarhus N, Denmark. annetrol@rm.dk.
- Steffensen R Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark.
- Trendelenburg M Division of Internal Medicine and Clinical Immunology lab, Department of Biomedicine, University Hospital Basel, University of Basel, Basel, Switzerland.
- Hauser T IZZ Immunologie-Zentrum Zürich, Zürich, Switzerland.
- Winther KG Department of Biomedicine, Aarhus University, Aarhus, Denmark.
- Hansen AG Department of Biomedicine, Aarhus University, Aarhus, Denmark.
- Stengaard-Pedersen K Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.
- Voss A Department of Rheumatology, Odense University Hospital, Odense, Denmark.
- Thiel S Department of Biomedicine, Aarhus University, Aarhus, Denmark.
- 2019-05-03
Published in:
- Journal of clinical immunology. - 2019
SLE
autoimmunity
complement
complement deficiency
ficolin-3 deficiency
Alleles
Female
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing
Genotype
Humans
Lectins
Lupus Erythematosus, Systemic
Male
Mutation
Phenotype
Risk Assessment
Sequence Analysis, DNA
English
PURPOSE
Ficolin-3 deficiency is caused by a mutation (+1637delC) in the FCN3 gene. It is a rare condition and has been associated with both infection and autoimmune disease including systemic lupus erythematosus (SLE). Here we investigated if ficolin-3 deficiency is more frequent in patients than in controls and tried to identify a common phenotype among ficolin-3 deficient individuals. Since a significant part of patients identified with ficolin-3 deficiency was diagnosed with SLE, we explored whether the heterozygous state of the FCN3+1637delC variant represents a risk factor in the development of SLE. Further, we examined other possible causes of ficolin-3 deficiency when the FCN3+1637delC is not present.
METHODS
A systematic literature search for studies measuring ficolin-3 was carried out. We examined 362 SLE patients and 596 controls for the presence of the variant FCN3+1637delC. We established assays for measurements of ficolin-3 and of auto-antibodies against ficolin-3. We sequenced the coding and non-coding regions of the FCN3 gene in an SLE patient with ficolin-3 deficiency not carrying the +1637delC.
RESULTS
Ficolin-3 deficiency leads to an 8-time increased odds of having a disease (p < 0.05). Three out of nine patients with deficiency had SLE. The heterozygous state of the deficiency variant is not associated with increased risk of developing SLE (p = 0.18).
CONCLUSION
By systematically reviewing the literature for the described cases of ficolin-3 deficiency, an autoimmune phenotype is emerging. Thirty-three percent of the ficolin-3 deficient patients had SLE. Heterozygosity for the FCN3 gene deletion causing the deficiency does not seem to be associated with the development of SLE.
Ficolin-3 deficiency is caused by a mutation (+1637delC) in the FCN3 gene. It is a rare condition and has been associated with both infection and autoimmune disease including systemic lupus erythematosus (SLE). Here we investigated if ficolin-3 deficiency is more frequent in patients than in controls and tried to identify a common phenotype among ficolin-3 deficient individuals. Since a significant part of patients identified with ficolin-3 deficiency was diagnosed with SLE, we explored whether the heterozygous state of the FCN3+1637delC variant represents a risk factor in the development of SLE. Further, we examined other possible causes of ficolin-3 deficiency when the FCN3+1637delC is not present.
METHODS
A systematic literature search for studies measuring ficolin-3 was carried out. We examined 362 SLE patients and 596 controls for the presence of the variant FCN3+1637delC. We established assays for measurements of ficolin-3 and of auto-antibodies against ficolin-3. We sequenced the coding and non-coding regions of the FCN3 gene in an SLE patient with ficolin-3 deficiency not carrying the +1637delC.
RESULTS
Ficolin-3 deficiency leads to an 8-time increased odds of having a disease (p < 0.05). Three out of nine patients with deficiency had SLE. The heterozygous state of the deficiency variant is not associated with increased risk of developing SLE (p = 0.18).
CONCLUSION
By systematically reviewing the literature for the described cases of ficolin-3 deficiency, an autoimmune phenotype is emerging. Thirty-three percent of the ficolin-3 deficient patients had SLE. Heterozygosity for the FCN3 gene deletion causing the deficiency does not seem to be associated with the development of SLE.
- Language
-
- English
- Open access status
- closed
- Identifiers
-
- DOI 10.1007/s10875-019-00627-2
- PMID 31044336
- Persistent URL
- https://sonar.ch/global/documents/270393
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