Associated Papers
Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in complement factor I deficiency.
Almpani M et al.
Journal of Human Immunity, 2025
The role of complement factor I rare genetic variants in age related macular degeneration in Finland.
Andreadi A et al.
Human Molecular Genetics, 2025
Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.
Hallam TM et al.
The Journal of Biological Chemistry, 2024
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Rare complement factor I variants associated with reduced macular thickness and age-related macular degeneration in the UK Biobank.
Tzoumas N et al.
Human Molecular Genetics, 2022
An assessment of prevalence of Type 1 CFI rare variants in European AMD, and why lack of broader genetic data hinders development of new treatments and healthcare access.
Jones AV et al.
Plos One, 2022
Functional and Genetic Landscape of Complement Dysregulation Along the Spectrum of Thrombotic Microangiopathy and its Potential Implications on Clinical Outcomes.
Timmermans SAMEG et al.
Kidney International Reports, 2021
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 2020
The natural course of pregnancies in women with primary atypical haemolytic uraemic syndrome and asymptomatic relatives.
Timmermans SAMEG et al.
British Journal of Haematology, 2020
Functional Analysis of Rare Genetic Variants in Complement Factor I (CFI) using a Serum-Based Assay in Advanced Age-related Macular Degeneration.
Java A et al.
Translational Vision Science & Technology, 2020
Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.
Willems E et al.
Clinical & Translational Immunology, 2020
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
Shields AM et al.
Frontiers in Immunology, 2019
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.
Franco-Jarava C et al.
Journal of Clinical Immunology, 2017
The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment.
Geerlings MJ et al.
Molecular Immunology, 2017
Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.
Tan PL et al.
Investigative Ophthalmology & Visual Science, 2017
Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.
Volokhina EB et al.
Clinical and Experimental Immunology, 2015
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.
Alba-Domínguez M et al.
Orphanet Journal of Rare Diseases, 2012
Complement factor I in health and disease.
Nilsson SC et al.
Molecular Immunology, 2011
New insights into postrenal transplant hemolytic uremic syndrome.
Zuber J et al.
Nature Reviews. Nephrology, 2011
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
Westra D et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndrome.
Bienaime F et al.
Kidney International, 2010
Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I.
Nilsson SC et al.
European Journal of Immunology, 2010