Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

MC Pickering, EG de Jorge… - The Journal of …, 2007 - rupress.org
Factor H (FH) is an abundant serum glycoprotein that regulates the alternative pathway of
complement-preventing uncontrolled plasma C3 activation and nonspecific damage to host …

Factor H dysfunction in patients with atypical hemolytic uremic syndrome contributes to complement deposition on platelets and their activation

A Ståhl, F Vaziri-Sani, S Heinen… - Blood, The Journal …, 2008 - ashpublications.org
Atypical hemolytic uremic syndrome (aHUS) may be associated with mutations in the C-
terminal of factor H (FH). FH binds to platelets via the C-terminal as previously shown using …

[HTML][HTML] Factor H-related protein 1 neutralizes anti-factor H autoantibodies in autoimmune hemolytic uremic syndrome

S Strobel, C Abarrategui-Garrido, E Fariza-Requejo… - Kidney international, 2011 - Elsevier
The autoimmune form of atypical hemolytic uremic syndrome (HUS) is characterized by
circulating autoantibodies against the complement regulator factor H, and is often …

The interactive factor h–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and factor I …

RE Saunders, C Abarrategui‐Garrido… - Human …, 2007 - Wiley Online Library
Atypical hemolytic uremic syndrome (aHUS) is a disease of hemolytic anemia,
thrombocytopenia, and renal failure associated with defective alternative pathway (AP) …

Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical …

I Moore, L Strain, I Pappworth… - Blood, The Journal …, 2010 - ashpublications.org
Factor H autoantibodies have been reported in approximately 10% of patients with atypical
hemolytic uremic syndrome (aHUS) and are associated with deficiency of factor H–related …

Human complement factor H deficiency associated with hemolytic uremic syndrome.

N Rougier, MD Kazatchkine, JP Rougier… - Journal of the …, 1998 - journals.lww.com
This study reports on six cases of deficiency in the human complement regulatory protein
Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in …

[HTML][HTML] Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome

MJ Lehtinen, AL Rops, DE Isenman… - Journal of biological …, 2009 - ASBMB
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy associated
with mutations in complement proteins, most frequently in the main plasma alternative …

Factor H and the pathogenesis of renal diseases

BH Ault - Pediatric Nephrology, 2000 - Springer
Complement factor H is a potent inhibitor of alternative pathway complement activation. The
factor H gene, a member of the regulators of complement activation (RCA) gene cluster …

Structure of complement factor H carboxyl‐terminus reveals molecular basis of atypical haemolytic uremic syndrome

TS Jokiranta, VP Jaakola, MJ Lehtinen… - The EMBO …, 2006 - embopress.org
Factor H (FH) is the key regulator of the alternative pathway of complement. The carboxyl‐
terminal domains 19–20 of FH interact with the major opsonin C3b, glycosaminoglycans …

De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome

S Heinen, P Sanchez‐Corral, MS Jackson… - Human …, 2006 - Wiley Online Library
Many of the complement regulatory genes within the RCA cluster (1q32) have arisen
through genomic duplication and the resulting high degree of sequence identity is likely to …