Translational Mini-Review Series on Complement Factor H: Genetics and disease associations of human complement factor H

Summary OTHER ARTICLES PUBLISHED IN THIS TRANSLATIONAL MINI-REVIEW SERIES ON COMPLEMENT FACTOR H Structural and functional correlations for factor H. Clin Exp Immunol 2008; 151: doi:10.1111/j.1365-2249.2007.03553.x Therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis. Clin Exp Immunol 2008; 151: doi:10.1111/j.1365-2249.2007.03558.x Renal diseases associated with complement factor H: novel insights from humans and animals. Clin Exp Immunol 2008; 151: doi:10.1111/j.1365-2249.2007.03574.x Factor H is an abundant plasma glycoprotein that plays a critical role in the regulation of the complement system in plasma and in the protection of host cells and tissues from damage by complement activation. Several recent studies have described the association of genetic variations of the complement factor H gene (CFH) with atypical haemolytic uraemic syndrome (aHUS), age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis (MPGN). This review summarizes our current knowledge of CFH genetics and examines the CFH genotype–phenotype correlations that are helping to understand the molecular basis underlying these renal and ocular pathologies.