Associated Papers
Complement factor I deficiency-associated neuroinflammatory disease among Old Order Amish.
Reid W et al.
The Journal of Allergy and Clinical Immunology, 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
High prevalence of the hotspot complement factor I p.Ile357Met pathogenic variant in Tunisian atypical hemolytic uremic syndrome patients: report of three new cases and review of the literature.
Tajouri A et al.
Frontiers in Immunology, 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
CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab
Massey V et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 2024
Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.
Brocklebank V et al.
Blood, 2023
Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.
Hallam TM et al.
Immunobiology, 2023
Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.
Bucciol G et al.
The Journal of Clinical Investigation, 2023
Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.
Acosta-Medina AA et al.
Blood Advances, 2023
Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE.
Gerogianni A et al.
Frontiers in Immunology, 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
A novel method for real-time analysis of the complement C3b:FH:FI complex reveals dominant negative CFI variants in age-related macular degeneration.
Hallam TM et al.
Frontiers in Immunology, 2022
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
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
de Jong S et al.
Frontiers in Immunology, 2021
Effect of rare coding variants in the CFI gene on Factor I expression levels.
de Jong S et al.
Human Molecular Genetics, 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
Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation.
Altmann T et al.
Neurology(r) Neuroimmunology & Neuroinflammation, 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
Pathogenic Variants in Complement Genes and Risk of Atypical Hemolytic Uremic Syndrome Relapse after Eculizumab Discontinuation.
Fakhouri F et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2017
Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.
Gleeson PJ et al.
Immunobiology, 2016
Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome.
Greenbaum LA et al.
Kidney International, 2016
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
Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.
Haerynck F et al.
Journal of Clinical Immunology, 2013
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
Geelen J et al.
Pediatric Nephrology (berlin, Germany), 2007
[From gene to disease; the haemolytic uraemic syndrome can be caused by mutations in regulating factors of the alternative route of the complement system].
Geelen JM et al.
Nederlands Tijdschrift Voor Geneeskunde, 2007