Associated Papers
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
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
Functional evaluation of rare variants in complement factor I using a minigene assay.
Donelson CJH et al.
Frontiers in Immunology, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.
Seddon JM et al.
Ophthalmology Science, 2023
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 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
Prevalence and phenotype associations of complement factor I mutations in geographic atrophy.
Khan AH et al.
Human Mutation, 2021
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
Plasma C3d levels as a diagnostic marker for complete complement factor I deficiency.
Naesens L et al.
The Journal of Allergy and Clinical Immunology, 2021
Primary pneumococcal peritonitis can be the first presentation of a familial complement factor I deficiency1.
Ugrinovic S et al.
Clinical and Experimental Immunology, 2020
Complement factor I deficiency in a 3-year-old boy with glomerulonephritis.
Donegan R et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 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
Rare Genetic Variants in Complement Factor I Lead to Low FI Plasma Levels Resulting in Increased Risk of Age-Related Macular Degeneration.
Hallam TM et al.
Investigative Ophthalmology & Visual Science, 2020
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.
Geerlings MJ et al.
Clinical Genetics, 2018
C3 glomerulonephritis and thrombotic microangiopathy of renal allograft after pulmonary infection in a male with concomitant two complement factor I gene variations: a case report.
Wen J et al.
Bmc Nephrology, 2018
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
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
An update for atypical haemolytic uraemic syndrome: diagnosis and treatment. A consensus document.
Campistol JM et al.
Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Complement therapy in atypical haemolytic uraemic syndrome (aHUS).
Wong EK et al.
Molecular Immunology, 2013
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
Atypical hemolytic uremic syndrome.
Loirat C et al.
Orphanet Journal of Rare Diseases, 2011