An extremely rare splice site mutation in the gene encoding complement factor I in a patient with atypical hemolytic uremic syndrome

2017 ◽  
Vol 32 (6) ◽  
pp. 584-588
Author(s):  
Tina S. Ipe ◽  
Jooeun Lim ◽  
Meredith Anne Reyes ◽  
Mike Ero ◽  
Christopher Leveque ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Splice Site ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Splice Site Mutation ◽  
Complement Factor ◽  
Site Mutation ◽  
Gene Encoding ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

Anti-complement factor I antibody associated atypical hemolytic uremic syndrome – A new insight for future perspective!

Immunobiology ◽  
2020 ◽  
Vol 225 (5) ◽  
pp. 152000
Author(s):  
Srinivasavaradan Govindarajan ◽  
Amit Rawat ◽  
Raja Ramachandran ◽  
Rekha Hans ◽  
Lesa Dawman ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Future Perspective ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Mutations in complement factor I as found in atypical hemolytic uremic syndrome lead to either altered secretion or altered function of factor I

2009 ◽  
Vol 40 (1) ◽  
pp. 172-185 ◽  
Author(s):  
Sara C. Nilsson ◽  
Nikolina Kalchishkova ◽  
Leendert A. Trouw ◽  
Veronique Fremeaux-Bacchi ◽  
Bruno O. Villoutreix ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3

2016 ◽  
Vol 36 (1) ◽  
pp. 72-75
Author(s):  
Emanuel Ferreira ◽  
Nuno Oliveira ◽  
Maria Marques ◽  
Luís Francisco ◽  
Ana Santos ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome

2022 ◽  
Vol 12 ◽  
Author(s):  
Sarah de Jong ◽  
Anita de Breuk ◽  
Bjorn Bakker ◽  
Suresh Katti ◽  
Carel B. Hoyng ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Macular Degeneration ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Age Related Macular Degeneration ◽  
Complement Factor ◽  
Serum Samples ◽  
Factor I ◽  
Complement Factor I ◽  
Age Related ◽  
Uremic Syndrome

Complement factor I (FI) is a central inhibitor of the complement system, and impaired FI function increases complement activation, contributing to diseases such as age-related macular degeneration (AMD) and atypical hemolytic uremic syndrome (aHUS). Genetic variation in complement factor I (CFI) has been identified in both AMD and aHUS, with more than half of these variants leading to reduced FI secretion levels. For many of the variants with normal FI secretion, however, functional implications are not yet known. Here we studied 11 rare missense variants, with FI secretion levels comparable to wildtype, but a predicted damaging effects based on the Combined Annotation Dependent Depletion (CADD) score. Three variants (p.Pro50Ala, p.Arg339Gln, and p.Ser570Thr) were analyzed in plasma and serum samples of carriers affected by AMD. All 11 variants (nine for the first time in this study) were recombinantly expressed and the ability to degrade C3b was studied with the C3b degradation assay. The amount of degradation was determined by measuring the degradation product iC3b with ELISA. Eight of 11 (73%) mutant proteins (p.Pro50Ala, p.Arg339Gln, p.Ile340Thr, p.Gly342Glu, p.Gly349Arg, p.Arg474Gln, p.Gly487Cys, and p.Gly512Ser) showed significantly impaired C3b degradation, and were therefore classified as likely pathogenic. Our data indicate that genetic variants in CFI with a CADD score >20 are likely to affect FI function, and that monitoring iC3b in a degradation assay is a useful tool to establish the pathogenicity of CFI variants in functional studies.

scholarly journals Atypical hemolytic-uremic syndrome due to complement factor I mutation

2017 ◽  
Vol 6 (6) ◽  
pp. 243-250 ◽  
Author(s):  
Abdullah H Almalki ◽  
Laila F Sadagah ◽  
Mohammed Qureshi ◽  
Hatim Maghrabi ◽  
Abdulrahman Algain ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Eculizumab for the treatment of an atypical hemolytic uremic syndrome with mutations in complement factor I and C3

Nefrología ◽  
2016 ◽  
Vol 36 (1) ◽  
pp. 72-75 ◽  
Author(s):  
Emanuel Ferreira ◽  
Nuno Oliveira ◽  
Maria Marques ◽  
Luís Francisco ◽  
Ana Santos ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Mutations in Complement Factor I Predispose to Development of Atypical Hemolytic Uremic Syndrome

2005 ◽  
Vol 16 (7) ◽  
pp. 2150-2155 ◽  
Author(s):  
David Kavanagh ◽  
Elizabeth J. Kemp ◽  
Elizabeth Mayland ◽  
Robin J. Winney ◽  
Jeremy S. Duffield ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Complement Factor ◽  
Factor I ◽  
Complement Factor I ◽  
Uremic Syndrome

scholarly journals Case Report: Lipoprotein Glomerulopathy Complicated by Atypical Hemolytic Uremic Syndrome

2021 ◽  
Vol 8 ◽  
Author(s):  
Lara Kollbrunner ◽  
Patricia Hirt-Minkowski ◽  
Javier Sanz ◽  
Elena Bresin ◽  
Thomas J. Neuhaus ◽  
...  
Keyword(s):  
Hemolytic Uremic Syndrome ◽  
Atypical Hemolytic Uremic Syndrome ◽  
Factor H ◽  
Complement Factor ◽  
Inherited Disease ◽  
Lipoprotein Glomerulopathy ◽  
Gene Encoding ◽  
Alternative Complement ◽  
Uremic Syndrome ◽  
The Complement System

Lipoprotein glomerulopathy (LPG) is a rare inherited disease caused by mutations in the APOE gene, encoding apolipoprotein E (apoE). Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) characterized by overactivation of the alternative complement pathway. Here we report the case of a 21-year-old man with LPG who developed aHUS. A functional complement assay demonstrated an overactivation of the complement system. Complementary genetic analysis revealed a homozygous aHUS risk allele for complement factor-H related 1 (CFHR1), CFHR1*B. To the best of our knowledge, this is the first report of an aHUS in a patient with LPG.

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