ArticleJournal of the American Society of Nephrology : JASN2014
Characterization of a factor H mutation that perturbs the alternative pathway of complement in a family with membranoproliferative GN.
Article in Journal of the American Society of Nephrology : JASN, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- C3 glomerulopathies: dense deposit disease and C3 glomerulonephritis.Frontiers in medicine · 2023Review
- Diagnosis and treatment of thrombotic microangiopathy.International journal of laboratory hematology · 2022Review
- Use of a B-cell depleting regimen for antifactor H autoantibody-mediated membranoproliferative glomerulonephritis in a paediatric patient.BMJ case reports · 2022Article
- A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negativeFrontiers in immunology · 2022Article
- FHR-5 Serum Levels andFrontiers in immunology · 2021Article
- Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis.Clinical kidney journal · 2020Article
- Characterization of Binding Properties of Individual Functional Sites of Human Complement Factor H.Frontiers in immunology · 2020Article
- C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy.Orphanet journal of rare diseases · 2019Article
- Regulation of the Complement System by Pentraxins.Frontiers in immunology · 2019Review
- Nephritic Factors: An Overview of Classification, Diagnostic Tools and Clinical Associations.Frontiers in immunology · 2019Review
- Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities.Current diabetes reports · 2018Review
- Diseases of complement dysregulation-an overview.Seminars in immunopathology · 2018Review
- Complement C5-inhibiting therapy for the thrombotic microangiopathies: accumulating evidence, but not a panacea.Clinical kidney journal · 2017Article
- Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.The Journal of biological chemistry · 2017Article
- A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.Scientific reports · 2017Article
- Thrombotic Microangiopathy in Inverted Formin 2Journal of the American Society of Nephrology : JASN · 2017Article
- Functional Characterization of the Disease-Associated N-Terminal Complement Factor H Mutation W198R.Frontiers in immunology · 2017Article
- C3 glomerulopathy.F1000Research · 2017Review
- A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.Journal of the American Society of Nephrology : JASN · 2016Article
- Update on C3 glomerulopathy.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2016Review
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Authors and funding
19 authors at 5 institutions in 1 country.
Funding
Abstract
Complement C3 activation is a characteristic finding in membranoproliferative GN (MPGN). This activation can be caused by immune complex deposition or an acquired or inherited defect in complement regulation. Deficiency of complement factor H has long been associated with MPGN. More recently, heterozygous genetic variants have been reported in sporadic cases of MPGN, although their functional significance has not been assessed. We describe a family with MPGN and acquired partial lipodystrophy. Although C3 nephritic factor was shown in family members with acquired partial lipodystrophy, it did not segregate with the renal phenotype. Genetic analysis revealed a novel heterozygous mutation in complement factor H (R83S) in addition to known risk polymorphisms carried by individuals with MPGN. Patients with MPGN had normal levels of factor H, and structural analysis of the mutant revealed only subtle alterations. However, functional analysis revealed profoundly reduced C3b binding, cofactor activity, and decay accelerating activity leading to loss of regulation of the alternative pathway. In summary, this family showed a confluence of common and rare functionally significant genetic risk factors causing disease. Data from our analysis of these factors highlight the role of the alternative pathway of complement in MPGN.
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