Associated Papers
Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report.
Szumutku F et al.
Frontiers in Immunology, 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
[Clinical characteristics and genetic profile of complement system in renal thrombotic microangiopathy in patients with severe forms of arterial hypertension].
Akaeva MI et al.
Terapevticheskii Arkhiv, 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
Complement Factor I Variants in Complement-Mediated Renal Diseases.
Zhang Y et al.
Frontiers in Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 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
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
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
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
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
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
Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.
Ostrowski J et al.
Scientific Reports, 2016
Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.
Szarvas N et al.
Molecular Immunology, 2016
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Genetic, molecular and functional analyses of complement factor I deficiency.
Nilsson SC et al.
European Journal of Immunology, 2009
[Clinicomorphological characteristics of renal disorders in patients with genetic thrombophilia].
Kozlovskaia NL et al.
Terapevticheskii Arkhiv, 2009
Molecular characterization of Complement Factor I deficiency in two Spanish families.
Ponce-Castro IM et al.
Molecular Immunology, 2008