NOTICE:

In 2010, Optherion completed two separate business transactions, one related to its diagnostics business and one related to its therapeutics business.

With respect to its diagnostics business, in February, 2010, Optherion completed an exclusive worldwide licensing agreement with Sequenom, Inc.. Under the agreement, Sequenom’s CAP accredited and CLIA-certified laboratory, Sequenom Center for Molecular Medicine (Sequenom CMM), obtained the rights to develop and commercialize diagnostic tests to predict genetic predisposition to late stage age-related macular degeneration (AMD). Please see News Room at Optherion.com for Sequenom’s press release.

With respect to its therapeutics business, also in 2010, Optherion completed a business transaction with another company. Both the company name and the transaction economics are confidential.

As a result of these two transactions, Optherion, itself, is no longer actively developing any diagnostics or therapeutics. Given this, the Optherion.com website has not been updated since year-end, 2010 albeit the nature of Optherion’s diagnostic and therapeutic endeavors are accurately represented in the website for the time period prior to the transactions.

Kindest regards,

Colin J. Foster
President & CEO
Optherion, Inc.

Atypical Hemolytic Uremic Syndrome – Overview and Treatments

Hemolytic-uremic syndrome in Switzerland: a nationwide surveillance 1997-2003.
  • Schifferli A, von Vigier RO, Fontana M, Spartà G, Schmid H, Bianchetti MG, Rudin C; Swiss Pediatric Surveillance Unit.
  • Eur J Pediatr. 2010 May;169(5):591-8. Epub 2009 Oct 15.
Impact of compound heterozygous complement factor H mutations on development of atypical hemolytic uremic syndrome-A pedigree revisited.
  • Johnson SA, Williams JM, Hakobyan S, Richards A, Perkins SJ, Marchbank KJ, Goodship TH, Morgan BP, Taylor CM, Savage CO.
  • Mol Immunol. 2010 Mar 19. [Epub ahead of print]
Atypical Hemolytic Uremic Syndrome: Update on the Complement System and What Is New.
  • Hirt-Minkowski P, Dickenmann M, Schifferli JA.
  • Nephron Clin Pract. 2010 Jan 14;114(4):c219-c235
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
  • Moore I, Strain L, Pappworth I, Kavanagh D, Barlow PN, Herbert AP, Schmidt CQ, Staniforth SJ, Holmes LV, Ward R, Morgan L, Goodship TH, Marchbank KJ.
  • Blood. 2010 Jan 14;115(2):379-87. Epub 2009 Oct 27.
Successful renal transplantation in factor H autoantibody associated HUS with CFHR1 and 3 deficiency and CFH variant G2850T.
  • Waters AM, Pappworth I, Marchbank K, Bockenhauer D, Tullus K, Pickering MC, Strain L, Sebire N, Shroff R, Marks SD, Goodship TH, Rees L.
  • Am J Transplant. 2010 Jan;10(1):168-72. Epub 2009 Nov 16.
Severe atypical HUS caused by CFH S1191L-case presentation and review of treatment options.
  • De S, Waters AM, Segal AO, Trautmann A, Harvey EA, Licht C.
  • Pediatr Nephrol. 2010 Jan;25(1):97-104. Epub 2009 Oct 24.
Epidemiological approach to identifying genetic predispositions for atypical hemolytic uremic syndrome.
  • Sullivan M, Erlic Z, Hoffmann MM, Arbeiter K, Patzer L, Budde K, Hoppe B, Zeier M, Lhotta K, Rybicki LA, Bock A, Berisha G, Neumann HP.
  • Ann Hum Genet. 2010 Jan;74(1):17-26.
aHUS: a disorder with many risk factors
  • Rodríguez de Córdoba S.
  • Blood. 2010 Jan 14;115(2):158-60.
Atypical Hemolytic Uremic Syndrome: Update on the Complement System and What Is New.
  • Hirt-Minkowski P, Dickenmann M, Schifferli JA.
  • Nephron Clin Pract. 2010 Jan 14;114(4):c219-c235
Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).
  • Westra D, Volokhina E, van der Heijden E, Vos A, Huigen M, Jansen J, van Kaauwen E, van der Velden T, van de Kar N, van den Heuvel L.
  • Nephrol Dial Transplant. 2010 Jan 26.
Functional analyses indicate a pathogenic role of factor H autoantibodies in atypical haemolytic uraemic syndrome.
  • Strobel S, Hoyer PF, Mache CJ, Sulyok E, Liu WS, Richter H, Oppermann M, Zipfel PF, Józsi M.
  • Nephrol Dial Transplant. 2010 Jan;25(1):136-44. Epub 2009 Aug 7.
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom.
  • Taylor CM, Machin S, Wigmore SJ, Goodship TH; working party from the Renal Association, the British Committee for Standards in Haematology and the British Transplantation Society.
  • Br J Haematol. 2010 Jan;148(1):37-47. Epub 2009 Oct 11.
Clinical practice. Today's understanding of the haemolytic uraemic syndrome.
  • Scheiring J, Rosales A, Zimmerhackl LB.
  • Eur J Pediatr. 2010 Jan;169(1):7-13. Epub 2009 Aug 26. Review.
The molecular genetic basis of age-related macular degeneration: an overview.
  • Katta S, Kaur I, Chakrabarti S.
  • J Genet. 2009 Dec;88(4):425-49.
Platelet-associated complement factor H in healthy persons and patients with atypical HUS.
  • Licht C, Pluthero FG, Li L, Christensen H, Habbig S, Hoppe B, Geary DF, Zipfel PF, Kahr WH.
  • Blood. 2009 Nov 12;114(20):4538-45. Epub 2009 Aug 24.
Haemolytic uraemic syndrome caused by factor H mutation: is single kidney transplantation under intensive plasmatherapy an option?
  • Hirt-Minkowski P, Schaub S, Mayr M, Schifferli JA, Dickenmann M, Frémeaux-Bacchi V, Steiger J.
  • Nephrol Dial Transplant. 2009 Nov;24(11):3548-51. Epub 2009 Jul 25.
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
  • Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P.
  • Blood. 2009 Nov 5;114(19):4261-71. Epub 2009 Sep 10.
Safety and long-term efficacy of eculizumab in a renal transplant patient with recurrent atypical hemolytic-uremic syndrome.
  • Chatelet V, Frémeaux-Bacchi V, Lobbedez T, Ficheux M, de Ligny BH.
  • Am J Transplant. 2009 Nov;9(11):2644-5. Epub 2009 Sep 22.
Hemolytic uremic syndrome due to homozygous factor H deficiency.
  • Sethi SK, Marie-Agnes DD, Thaker N, Hari P, Bagga A.
  • Clin Exp Nephrol. 2009 Oct;13(5):526-30. Epub 2009 Jul 1
Trombotic microangiopathy: can liver-kidney transplantation cure aHUS?
  • Cheong HI.
  • Nat Rev Nephrol. 2009 Oct;5(10):556-7.
Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome.
  • Roumenina LT, Jablonski M, Hue C, Blouin J, Dimitrov JD, Dragon-Durey MA, Cayla M, Fridman WH, Macher MA, Ribes D, Moulonguet L, Rostaing L, Satchell SC, Mathieson PW, Sautes-Fridman C, Loirat C, Regnier CH, Halbwachs-Mecarelli L, Fremeaux-Bacchi V.
  • Blood. 2009 Sep 24;114(13):2837-45. Epub 2009 Jul 7.
Autoimmune forms of thrombotic microangiopathy and membranoproliferative glomerulonephritis: Indications for a disease spectrum and common pathogenic principles.
  • Skerka C, Licht C, Mengel M, Uzonyi B, Strobel S, Zipfel PF, Józsi M.
  • Mol Immunol. 2009 Sep;46(14):2801-7. Epub 2009 Jul 28.
Atypical hemolytic uremic syndrome associated with complement factor H autoantibodies and CFHR1/CFHR3 deficiency.
  • Lee BH, Kwak SH, Shin JI, Lee SH, Choi HJ, Kang HG, Ha IS, Lee JS, Dragon-Durey MA, Choi Y, Cheong HI.
  • Pediatr Res. 2009 Sep;66(3):336-40
Varicella as a trigger of atypical haemolytic uraemic syndrome associated with complement dysfunction: two cases.
  • Kwon T, Belot A, Ranchin B, Baudouin V, Fremeaux-Bacchi V, Dragon-Durey MA, Cochat P, Loirat C.
  • Nephrol Dial Transplant. 2009 Sep;24(9):2752-4. Epub 2009 Apr 17.
Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome.
  • Davin JC, Buter N, Groothoff J, van Wijk J, Bouts A, Strain L, Goodship T.
  • Pediatr Nephrol. 2009 Sep;24(9):1757-60. Epub 2009 Apr 17
Thrombomodulin mutations in atypical hemolytic-uremic syndrome.
  • Delvaeye M, Noris M, De Vriese A, Esmon CT, Esmon NL, Ferrell G, Del-Favero J, Plaisance S, Claes B, Lambrechts D, Zoja C, Remuzzi G, Conway EM.
  • N Engl J Med. 2009 Jul 23;361(4):345-57.
Shiga toxin-producing Escherichia coli and atypical enteropathogenic Escherichia coli strains isolated from healthy sheep of different populations in São Paulo, Brazil.
  • Vettorato MP, de Castro AF, Cergole-Novella MC, Camargo FL, Irino K, Guth BE.
  • Lett Appl Microbiol. 2009 Jul;49(1):53-9. Epub 2009 Apr 17
Atypical hemolytic uremic syndrome responsive to steroids and intravenous immune globulin.
  • Watt T, Warshaw B, Katzenstein HM.
  • Pediatr Blood Cancer. 2009 Jul;53(1):90-1.
The high frequency of complement factor H related CFHR1 gene deletion is restricted to specific subgroups of patients with atypical haemolytic uraemic syndrome.
  • Dragon-Durey MA, Blanc C, Marliot F, Loirat C, Blouin J, Sautes-Fridman C, Fridman WH, Frémeaux-Bacchi V.
  • J Med Genet. 2009 Jul;46(7):447-50. Epub 2009 May 11.
Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both factor I and MCP.
  • Cruzado JM, de Córdoba SR, Melilli E, Bestard O, Rama I, Sánchez-Corral P, López-Trascasa M, Navarro I, Torras J, Gomà M, Grinyó JM.
  • Am J Transplant. 2009 Jun;9(6):1477-83. Epub 2009 May 20
Mutations of factor H impair regulation of surface-bound C3b by three mechanisms in atypical hemolytic uremic syndrome.
  • Lehtinen MJ, Rops AL, Isenman DE, van der Vlag J, Jokiranta TS.
  • J Biol Chem. 2009 Jun 5;284(23):15650-8. Epub 2009 Apr 7.
The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome.
  • Ferreira VP, Herbert AP, Cortés C, McKee KA, Blaum BS, Esswein ST, Uhrín D, Barlow PN, Pangburn MK, Kavanagh D.
  • J Immunol. 2009 Jun 1;182(11):7009-18.
C3 deposition glomerulopathy due to a functional factor H defect.
  • Habbig S, Mihatsch MJ, Heinen S, Beck B, Emmel M, Skerka C, Kirschfink M, Hoppe B, Zipfel PF, Licht C.
  • Kidney Int. 2009 Jun;75(11):1230-4. Epub 2008 Jul 16.
Shiga toxin activates complement and binds factor H: evidence for an active role of complement in hemolytic uremic syndrome.
  • Orth D, Khan AB, Naim A, Grif K, Brockmeyer J, Karch H, Joannidis M, Clark SJ, Day AJ, Fidanzi S, Stoiber H, Dierich MP, Zimmerhackl LB, Würzner R.
  • Immunol. 2009 May 15;182(10):6394-400.
Anti-Factor H autoantibodies in a fifth renal transplant recipient with atypical hemolytic and uremic syndrome.
  • Le Quintrec M, Zuber J, Noel LH, Thervet E, Frémeaux-Bacchi V, Niaudet P, Fridman WH, Legendre C, Dragon-Durey MA.
  • Am J Transplant. 2009 May;9(5):1223-9.
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome.
  • Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB; European Paediatric Study Group for HUS.
  • Pediatr Nephrol. 2009 Apr;24(4):687-96. Epub 2008 Sep 18.
Thrombotic microangiopathies: towards a pathophysiology-based classification.
  • Coppo P, Veyradier A.
  • Cardiovasc Hematol Disord Drug Targets. 2009 Mar;9(1):36-50.
Autoantibodies in haemolytic uraemic syndrome (HUS).
  • Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V.
  • Thromb Haemost. 2009 Feb;101(2):227-32
Factor I and factor H deficiency in renal diseases: similar defects in the fluid phase have a different outcome at the surface of the glomerular basement membrane.
  • Zipfel PF, Smith RJ, Skerka C.
  • Nephrol Dial Transplant. 2009 Feb;24(2):385-7. Epub 2008 Dec 4.
Pathological aspects of membranoproliferative glomerulonephritis (MPGN) and haemolytic uraemic syndrome (HUS) / thrombocytic thrombopenic purpura (TTP).
  • Benz K, Amann K.
  • Thromb Haemost. 2009 Feb;101(2):265-70. Review
Autoantibodies in haemolytic uraemic syndrome (HUS).
  • Skerka C, Józsi M, Zipfel PF, Dragon-Durey MA, Fremeaux-Bacchi V.
  • Thromb Haemost. 2009 Feb;101(2):227-32
Hemolytic-uremic syndrome: what is the mechanism?
  • Fremeaux-Bacchi V, Fakhouri F, Loirat C.
  • Rev Prat. 2008 Dec 15;58(19):2093-6.
Liver-Kidney Transplantation to Cure Atypical Hemolytic Uremic Syndrome.
  • Saland JM, Ruggenenti P, Remuzzi G; Consensus Study Group
  • J Am Soc Nephrol. 2008 Dec 17. [Epub ahead of print]
Successful Split Liver-Kidney Trnasplant for Factor H Associated Hemolytic Uremic Syndrome
  • Saland JM, Shneider BL, Bromberg JS, Shi PA, Ward SC, Magid MS, Benchimol C, Seikaly MG, Emre SH, Bresin E, Remuzzi G.
  • Clin J Am Soc Nephrol. 2008 Nov 12. [Epub ahead of print]
Atypical haemolytic uremic syndrome complicated by microangiopathic antiphospholipid-associated syndrome.
  • Meglic A, Grosek S, Benedik-Dolnicar M, Avcin T.
  • Lupus. 2008 Sep;17(9):842-5.
Hemolytic uremic syndrome recurrence after renal transplantation
  • Loirat C, Fremeaux-Bacchi V.
  • Pediatr Transplant. 2008 Sep;12(16): 619-29. Epub 2008 May 10
Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
  • Davin JC, Strain L, Goodship TH
  • Pediatr Nephrol. 2008 Sep;23(9):1517-21. Epub 2008 May 16
Recurrent Atypical Hemolytic Uremic Syndrome Associated With Factor I Mutation in a Living Related Renal Transplant Recipient
  • Chan MR, Thomas CP, Torrealba JR, Djamali A, Fernandez LS, Nishimura CJ, Smith RJ, Samaniego MD
  • Am J Kidney Dis. 2008 Sep 19, [Epub ahead of print]
Guideline for the investigation and initial therapy of diarrhea-negative hemolytic uremic syndrome.
  • Ariceta G, Besbas N, Johnson S, Karpman D, Landau D, Licht C, Loirat C, Pecoraro C, Taylor CM, Van de Kar N, Vandewalle J, Zimmerhackl LB; The European Paediatric Study Group for HUS
  • Pediatr Nephrol. 2008 Sep 18. [Epub ahead of print]
Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.
  • Fremeaux-Bacchi V, Miller EC, Liszewski MK, Strain L, Blouin J, Brown AL, Moghal N, Kaplan BS, Weiss RA, Lhotta K, Kapur G, Mattoo T, Nivet H, Wong W, Gie S, Hurault de Ligny B, Fischbach M, Gupta R, Hauhart R, Meunier V, Loirat C, Dragon-Durey MA, Fridman WH, Janssen BJ, Goodship TH, Atkinson JP.
  • Blood. 2008 Sep 16. [Epub ahead of print]
Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations.
  • Lapeyraque AL, Wagner E, Phan V, Clermont MJ, Merouani A, Fremeaux-Bacchi V, Goodship TH, Robitaille P.
  • Pediatr Nephrol. 2008 Aug;23(8):1363-6. Epub 2008 Apr 19
Complement mutation-associated de novo thrombotic microanglopathy following kidney transplantation
  • Le Quintrec M, Lionet A, Kamar N, Karras A, Barbier S, Buchler M, Fakhouri F, Provost F, Fridman WH, Thervet E, Legendre C, Zuber J, Fremeaux-Bacchi V.
  • Am J Transplant, 2008 Aug;8(8):1694-701. Epub 2008 Jun 28.
Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome.
  • Abarrategui-Garrido C, Melgosa M, Peña-Carrión A, de Jorge EG, de Córdoba SR, López-Trascasa M, Sánchez-Corral P.
  • Am J Kidney Dis. 2008 Jul;52(1):171-80. Epub 2008 Apr 18.
Complement and the atypical hemolytic uremic syndrome in children
  • Loirat C, Noris M, Fremeaux-Bacchi V
  • Pediatr Nephrol. 2008 Jul 2. [Epub ahead of print]
What’s new in haemolytic uraemic syndrome?
  • Johnson S, Taylor CM
  • Eur J Pediatr. 2008 Jun 25. [Epub ahead of print]
Uremic and haemolytic syndrome in children: study of 17 cases
  • Chemli J, Hassayoun S, Krid S, Ghali N, Abroug S, Zakhama A, Harbi A.
  • Tunis Med. 2008 May;86(5):479-85.
Plasma therapy in atypical haemolytic uremic syndrome: lessons from a family with a factor H mutation.
  • Davin JC, Strain L, Goodship TH.
  • Pediatr Nephrol. 2008 May 16.
Hemolytic uremic syndrome recurrence after renal transplantation.
  • Loirat C, Fremeaux-Bacchi V.
  • Pediatr Transplant. 2008 May 14.
Hemolytic uremic syndrome in children in Puerto Rico: a rare disease with atypical features.
  • Pedrogo-Rodríguez Y, Pérez-Rodríguez JO, Bonilla-Felix M.
  • Bol Asoc Med P R. 2008 Apr-Jun;100(2):14-6.
Chronic course of a hemolytic uremic syndrome caused by a deficiency of factor H-related proteins (CFHR1 and CFHR3).
  • Koziolek MJ, Zipfel PF, Skerka C, Vasko R, Gröne EF, Müller GA, Strutz F.
  • Kidney Int. 2008 Apr 30.
Association of a factor H mutation with hemolytic uremic syndrome following a diarrheal illness.
  • Edey MM, Mead PA, Saunders RE, Strain L, Perkins SJ, Goodship TH, Kanagasundaram NS.
  • Am J Kidney Dis. 2008 Mar;51(3):487-90.
Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals.
  • Pickering MC, Cook HT.
  • Clin Exp Immunol. 2008 Feb;151(2):210-30. Review
Translational mini-review series on complement factor H: therapies of renal diseases associated with complement factor H abnormalities: atypical haemolytic uraemic syndrome and membranoproliferative glomerulonephritis.
  • Noris M, Remuzzi G.
  • Clin Exp Immunol. 2008 Feb;151(2):199-209. Epub 2007 Dec 7.
Successful liver-kidney transplantation in two children with aHUS caused by a mutation in complement factor H.
  • Jalanko H, Peltonen S, Koskinen A, Puntila J, Isoniemi H, Holmberg C, Pinomäki A, Armstrong E, Koivusalo A, Tukiainen E, Mäkisalo H, Saland J, Remuzzi G, de Cordoba S, Lassila R, Meri S, Jokiranta TS.
  • Am J Transplant. 2008 Jan;8(1):216-21.
Update on evaluating complement in hemolytic uremic syndrome.
  • Kavanagh D, Goodship TH.
  • Curr Opin Nephrol Hypertens. 2007 Nov;16(6):565-71.
Complete factor H deficiency-associated atypical hemolytic uremic syndrome in a neonate
  • Cho HY, Lee BS, Moon KC, Ha IS, Cheong HI, Choi Y.
  • Pediatr Nephrol. 2007 Jun;22(6):874-80. Epub 2007 Feb 13.
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains.
  • Pickering MC, de Jorge EG, Martinez-Barricarte R, Recalde S, Garcia-Layana A, Rose KL, Moss J, Walport MJ, Cook HT, de Córdoba SR, Botto M.
  • J Exp Med. 2007 Jun 11;204(6):1249-56. Epub 2007 May 21.
Complement factor H and the hemolytic uremic syndrome.
  • Atkinson JP, Goodship TH.
  • J Exp Med. 2007 Jun 11;204(6):1245-8. Epub 2007 Jun 4.
The interactive Factor H-atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models.
  • Saunders RE, Abarrategui-Garrido C, Frémeaux-Bacchi V, Goicoechea de Jorge E, Goodship TH, López Trascasa M, Noris M, Ponce Castro IM, Remuzzi G, Rodríguez de Córdoba S, Sánchez-Corral P, Skerka C, Zipfel PF, Perkins SJ.
  • Hum Mutat. 2007 Mar;28(3):222-34.
Deletion of complement factor H-related genes CFHR1 and CFHR3 is associated with atypical hemolytic uremic syndrome.
  • Zipfel PF, Edey M, Heinen S, Jozsi M, Richter H, Misselwitz J, Hoppe B, Routledge D, Strain L, Hughes AE, Goodship JA, Licht C, Goodship TH, Skerka C.
  • PLos Genet. 2007 Mar 16;3(3):e41. Epub 2007 Feb 1.
Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at the surface of endothelial cells.
  • Heinen S, Józsi M, Hartmann A, Noris M, Remuzzi G, Skerka C, Zipfel PF.
  • J Am Soc Nephrol. 2007 Feb;18(2):506-14. Epub 2007 Jan 17
Atypical haemolytic uraemic syndrome associated with a hybrid complement gene
  • Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH.
  • PLoS Med. 2006 Oct;3(10):e431. Comment in: PLoS Med. 2006 Oct;3(10):e432.

Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, Bettinaglio P, Mele C, Bresin E, Cassis L, Gamba S, Porrati F, Bucchioni S, Monteferrante G, Fang CJ, Liszewski MK, Kavanagh D, Atkinson JP, Remuzzi G; International Registry of Recurrent and Familial HUS/TTP.
Blood. 2006 Aug 15;108(4):1267-79. Epub 2006 Apr 18.
http://www.ncbi.nlm.nih.gov/pubmed/16621965

Favorable long-term outcome after liver-kidney transplant for recurrent hemolytic uremic syndrome associated with a factor H mutation.
  • Saland JM, Emre SH, Shneider BL, Benchimol C, Ames S, Bromberg JS, Remuzzi G, Strain L, Goodship TH.
  • Am J Transplant. 2006 Aug;6(8):1948-52
The C-terminus of complement regulator Factor H mediates target recognition: evidence for a compact conformation of the native protein
  • Oppermann M, Manuelian T, Józsi M, Brandt E, Jokiranta TS, Heinen S, Meri S, Skerka C, Götze O, Zipfel PF.
  • Clin Exp Immunol. 2006 May;144(2):342-52.
Structure of complement factor H carboxyl-terminus reveals molecular basis of atypical haemolytic uremic syndrome
  • Jokiranta TS, Jaakola VP, Lehtinen MJ, Pärepalo M, Meri S, Goldman A.
  • EMBO J. 2006 Apr 19;25(8):1784-94.
Epidemiology, clinical presentation, and pathophysiology of atypical and recurrent hemolytic uremic syndrome.
  • Zimmerhackl LB, Besbas N, Jungraithmayr T, van de Kar N, Karch H, Karpman D, Landau D, Loirat C, Proesmans W, Prüfer F, Rizzoni G, Taylor MC; European Study Group for Haemolytic Uraemic Syndromes and Related Disorders.
  • Semin Thromb Hemost. 2006 Mar;32(2):113-20.
Terminal complement complex (C5b-9) in children with recurrent hemolytic uremic syndrome.
  • Prüfer F, Scheiring J, Sautter S, Jensen DB, Treichl R, Würzner R, Zimmerhackl LB.
  • Semin Thromb Hemost. 2006 Mar;32(2):121-7
The role of defective complement control in hemolytic uremic syndrome
  • Zipfel PF, Misselwitz J, Licht C, Skerka C.
  • Semin Thromb Hemost. 2006 Mar;32(2):146-54.
Phenotypic expression of factor H mutations in patients with atypical hemolytic uremic syndrome.
  • Vaziri-Sani F, Holmberg L, Sjoholm AG, Kristoffersson AC, Manea M, Fremeaux-Bacchi V, Fehrman-Ekholm I, Raafat R, Karpman D.
  • Kidney Int. 2006 Mar; 69(69):981-8.
An interactive web database of factor H-associated hemolytic uremic syndrome mutations: insights into the structural consequences of disease-associated mutations.
  • Saunders RE, Goodship TH, Zipfel PF, Perkins SJ.
  • Hum Mutat. 2006 Jan;27(1):21-30
Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions.
  • Józsi M, Heinen S, Hartmann A, Ostrowicz CW, Hälbich S, Richter H, Kunert A, Licht C, Saunders RE, Perkins SJ, Zipfel PF, Skerka C.
  • J Am Soc Nephrol. 2006 Jan;17(1):170-7. Epub 2005 Dec 7
Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue.
  • Atkinson JP, Liszewski MK, Richards A, Kavanagh D, Moulton EA.
  • Ann N Y Acad Sci. 2005 Nov;1056:144-52.
Binding of complement factor H to endothelial cells is mediated by the carboxy-terminal glycosaminoglycan binding site
  • Jokiranta TS, Cheng ZZ, Seeberger H, Jòzsi M, Heinen S, Noris M, Remuzzi G, Ormsby R, Gordon DL, Meri S, Hellwage J, Zipfel PF.
  • Am J Pathol. 2005 Oct;167(4):1173-81.
Hemolytic uremic syndrome
  • Noris M, Remuzzi G.
  • J Am Soc Nephrol. 2005 Apr;16(4):1035-50. Epub 2005 Feb 23.
Successful plasma therapy for atypical hemolytic uremic syndrome caused by factor H deficiency owing to a novel mutation in the complement cofactor protein domain 15
  • Licht C, Weyersberg A, Heinen S, Stapenhorst L, Devenge J, Beck B, Waldherr R, Kirschfink M, Zipfel PF, Hoppe B.
  • Am J Kidney Dis. 2005 Feb;45(2):415-21.
Posttransplantation cytomegalovirus-induced recurrence of atypical hemolytic uremic syndrome associated with a factor H mutation: successful treatment with intensive plasma exchanges and ganciclovir.
  • Olie KH, Goodship TH, Verlaak R, Florquin S, Groothoff JW, Strain L, Weening JJ, Davin JC.
  • Am J Kidney Dis. 2005 Jan;45(1):e12-5.
Hemolytic uremic syndrome incidence in New York.
  • Chang HG, Tserenpuntsag B, Kacica M, Smith PF, Morse DL.
  • Emerg Infect Dis. 2004 May;10(5):928-31
Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases
  • Dragon-Durey MA, Frémeaux-Bacchi V, Loirat C, Blouin J, Niaudet P, Deschenes G, Coppo P, Herman Fridman W, Weiss L.
  • J Am Soc Nephrol. 2004 Mar;15(3):787-95
Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease
  • Caprioli J, Castelletti F, Bucchioni S, Bettinaglio P, Bresin E, Pianetti G, Gamba S, Brioschi S, Daina E, Remuzzi G, Noris M; International Registry of Recurrent and Familial HUS/TTP.
  • Hum Mol Genet. 2003 Dec 15;12(24):3385-95. Epub 2003 Oct 28.
The risk of recurrence of hemolytic uremic syndrome after renal transplantation in children.
  • Loirat C, Niaudet P.
  • Pediatr Nephrol. 2003 Nov;18(11):1095-101. Epub 2003 Sep 17.
Successful (?) therapy of hemolytic-uremic syndrome with factor H abnormality
  • Gerber A, Kirchhoff-Moradpour AH, Obieglo S, Brandis M, Kirschfink M, Zipfel PF, Goodship JA, Zimmerhackl LB.
  • Pediatr Nephrol. 2003 Sep;18(9):952-5. Epub 2003 Jun 26.
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome
  • Manuelian T, Hellwage J, Meri S, Caprioli J, Noris M, Heinen S, Jozsi M, Neumann HP, Remuzzi G, Zipfel PF.
  • J Clin Invest. 2003 Apr;111(8):1181-90
Complement C3b/C3d and cell surface polyanions are recognized by overlapping binding sites on the most carboxyl-terminal domain of complement factor H
  • Hellwage J, Jokiranta TS, Friese MA, Wolk TU, Kampen E, Zipfel PF, Meri S.
  • J Immunol. 2002 Dec 15;169(12):6935-44
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome
  • Sánchez-Corral P, Pérez-Caballero D, Huarte O, Simckes AM, Goicoechea E, López-Trascasa M, de Córdoba SR.
  • Am J Hum Genet. 2002 Dec;71(6):1285-95. Epub 2002 Nov 6.
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
  • Pérez-Caballero D, González-Rubio C, Gallardo ME, Vera M, López-Trascasa M, Rodríguez de Córdoba S, Sánchez-Corral P.
  • Am J Hum Genet. 2001 Feb;68(2):478-84. Epub 2001 Jan 17.
Human complement factor H deficiency associated with hemolytic uremic syndrome.
  • Rougier N, Kazatchkine MD, Rougier JP, Fremeaux-Bacchi V, Blouin J, Deschenes G, Soto B, Baudouin V, Pautard B, Proesmans W, Weiss E, Weiss L.
  • J Am Soc Nephrol, 1998 Dec;9(12):2318-26.
Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.
  • Ohali M, Shalev H, Schlesinger M, Katz Y, Kachko L, Carmi R, Sofer S, Landau D.
  • Pediatr Nephrol. 1998 Oct;12(8):619-24.
Recurrent and de novo renal diseases after renal transplantation: a report from the renal allograft disease registry.
  • Hariharan S, Peddi VR, Savin VJ, Johnson CP, First MR, Roza AM, Adams MB.
  • Am J Kidney Dis. 1998 Jun;31(6):928-31.
Familial hemolytic-uremic syndrome and homozygous factor H deficiency.
  • Pichette V, Querin S, Schurch W, Brun G, Lehner-Netsch G, Delage JM.
  • Am J Kidney Dis. 1994 Dec;24(6):936-41.
Treatment of the childhood haemolytic uraemic syndrome with plasma. A multicentre randomized controlled trial. The French Society of Paediatric Nephrology.
  • Loirat C, Sonsino E, Hinglais N, Jais JP, Landais P, Fermanian J.
  • Service de Nephrologie Pédiatrique, Hôpital Robert Debré, Paris, France. Pediatr Nephrol. 1988 Jul;2(3):279-85.
H deficiency in two brothers with atypical dense intramembranous deposit disease.
  • Levy M, Halbwachs-Mecarelli L, Gubler MC, Kohout G, Bensenouci A, Niaudet P, Hauptmann G, Lesavre P.
  • Kidney Int. 1986 Dec;30(6):949-56.