Varaico: Literature-Extracted Genetic Variants

Gene:CFI
Variant:p.D519N
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CFI

NM_000204.5:p.D519N

Associated Papers

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Complement factor I: Regulatory nexus, driver of immunopathology, and therapeutic.

Hallam TM et al.

Immunobiology, 2023

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

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

Effect of rare coding variants in the CFI gene on Factor I expression levels.

de Jong S et al.

Human Molecular Genetics, 2020

Complement factor I deficiency: A potentially treatable cause of fulminant cerebral inflammation.

Altmann T et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2020

Quantitative multiplex profiling of the complement system to diagnose complement-mediated diseases.

Willems E et al.

Clinical & Translational Immunology, 2020

33318796 (PubMed )
Supplement: CTI2-9-e1225-s001.pdf

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

29888403 (PubMed )
Supplement: CGE-94-330-s001.zip › Appendix_S1 › Table_S4.xlsx › CFI

Chromosomal rearrangement-A rare cause of complement factor I associated atypical haemolytic uraemic syndrome.

Gleeson PJ et al.

Immunobiology, 2016

Discontinuation of eculizumab treatment in atypical hemolytic uremic syndrome: an update.

Ardissino G et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015

Atypical hemolytic uremic syndrome.

Kavanagh D et al.

Seminars in Nephrology, 2013

Complement factor I in health and disease.

Nilsson SC et al.

Molecular Immunology, 2011

Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype.

Noris M et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."