[HTML][HTML] Atypical hemolytic uremic syndrome

D Kavanagh, TH Goodship, A Richards - Seminars in nephrology, 2013 - Elsevier
Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia,
thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease …

[HTML][HTML] The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment

MJ Geerlings, EK de Jong, AI den Hollander - Molecular immunology, 2017 - Elsevier
Age-related macular degeneration (AMD) is a progressive retinal disease and the major
cause of irreversible vision loss in the elderly. Numerous studies have found both common …

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration

JM Seddon, Y Yu, EC Miller, R Reynolds, PL Tan… - Nature …, 2013 - nature.com
To define the role of rare variants in advanced age-related macular degeneration (AMD)
risk, we sequenced the exons of 681 genes within all reported AMD loci and related …

[HTML][HTML] Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies

A Servais, LH Noël, LT Roumenina, M Le Quintrec… - Kidney international, 2012 - Elsevier
Dense deposit disease and glomerulonephritis with isolated C3 deposits are
glomerulopathies characterized by deposits of C3 within or along the glomerular basement …

Atypical hemolytic uremic syndrome

C Loirat, V Frémeaux-Bacchi - Orphanet journal of rare diseases, 2011 - Springer
Hemolytic uremic syndrome (HUS) is defined by the triad of mechanical hemolytic anemia,
thrombocytopenia and renal impairment. Atypical HUS (aHUS) defines non Shiga-toxin …

Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndrome

AL Sellier-Leclerc, V Fremeaux-Bacchi… - Journal of the …, 2007 - journals.lww.com
Mutations in factor H (CFH), factor I (IF), and membrane cofactor protein (MCP) genes have
been described as risk factors for atypical hemolytic uremic syndrome (aHUS). This study …

Haemolytic uraemic syndrome

D Karpman, S Loos, R Tati… - Journal of internal …, 2017 - Wiley Online Library
Haemolytic uraemic syndrome (HUS) is defined by the simultaneous occurrence of
nonimmune haemolytic anaemia, thrombocytopenia and acute renal failure. This leads to …

Genetic justification of severe COVID-19 using a rigorous algorithm

E Gavriilaki, PG Asteris, T Touloumenidou… - Clinical …, 2021 - Elsevier
Recent studies suggest excessive complement activation in severe coronavirus disease-19
(COVID-19). The latter shares common characteristics with complement-mediated …

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

JPH Van De Ven, SC Nilsson, PL Tan, GHS Buitendijk… - Nature …, 2013 - nature.com
Up to half of the heritability of age-related macular degeneration (AMD) is explained by
common variants,,,,. Here, we report the identification of a rare, highly penetrant missense …

[HTML][HTML] Implications of genetic variation in the complement system in age-related macular degeneration

S de Jong, G Gagliardi, A Garanto, A de Breuk… - Progress in Retinal and …, 2021 - Elsevier
Age-related macular degeneration (AMD) is the main cause of vision loss among the elderly
in the Western world. While AMD is a multifactorial disease, the complement system was …