PubMed

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

Nilsson SC, Kalchishkova N, Trouw LA, Fremeaux-Bacchi V, Villoutreix BO, Blom AM.

Eur J Immunol. 2009 Oct 28. [Epub ahead of print]PMID: 19877009 [PubMed - as supplied by publisher]Related articles

CD46-induced human Treg enhance B-cell responses.

Fuchs A, Atkinson JP, Fremeaux-Bacchi V, Kemper C.

Eur J Immunol. 2009 Sep 25;39(11):3097-3109. [Epub ahead of print]PMID: 19784949 [PubMed - as supplied by publisher]Related articles

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. No abstract available. PMID: 19775316 [PubMed - in process]Related articles

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.PMID: 19633317 [PubMed - in process]Related articles

A large family with a gain-of-function mutation of complement C3 predisposing to atypical hemolytic uremic syndrome, microhematuria, hypertension and chronic renal failure.

Lhotta K, Janecke AR, Scheiring J, Petzlberger B, Giner T, Fally V, Würzner R, Zimmerhackl LB, Mayer G, Fremeaux-Bacchi V.

Clin J Am Soc Nephrol. 2009 Aug;4(8):1356-62. Epub 2009 Jul 9.PMID: 19590060 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19584399 [PubMed - indexed for MEDLINE]Related articles

Complement inhibitor eculizumab in atypical hemolytic uremic syndrome.

Mache CJ, Acham-Roschitz B, Frémeaux-Bacchi V, Kirschfink M, Zipfel PF, Roedl S, Vester U, Ring E.

Clin J Am Soc Nephrol. 2009 Aug;4(8):1312-6. Epub 2009 Jun 25.PMID: 19556379 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19435718 [PubMed - indexed for MEDLINE]Related articles

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. Erratum in: Am J Transplant. 2009 Sep;9(9):2205. Niauif, P [added]. Am J Transplant.2009 Nov;9(11):2647. Niauif, P [corrected to Niaudet, P]. PMID: 19422347 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 19376828 [PubMed - in process]Related articles

[Hemolytic-uremic syndrome: what is the mechanism?]

Fremeaux-Bacchi V, Fakhouri F, Loirat C.

Rev Prat. 2008 Dec 15;58(19):2093-6. French. PMID: 19213534 [PubMed - indexed for MEDLINE]Related articles

Hereditary and acquired complement dysregulation in membranoproliferative glomerulonephritis.

Licht C, Fremeaux-Bacchi V.

Thromb Haemost. 2009 Feb;101(2):271-8. Review.PMID: 19190809 [PubMed - indexed for MEDLINE]Related articles

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. Review.PMID: 19190803 [PubMed - indexed for MEDLINE]Related articles

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome.

Frémeaux-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 Dec 15;112(13):4948-52. Epub 2008 Sep 16.PMID: 18796626 [PubMed - indexed for MEDLINE]Related articles

Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndrome.

Fakhouri F, Jablonski M, Lepercq J, Blouin J, Benachi A, Hourmant M, Pirson Y, Dürrbach A, Grünfeld JP, Knebelmann B, Frémeaux-Bacchi V.

Blood. 2008 Dec 1;112(12):4542-5. Epub 2008 Jul 24.PMID: 18658028 [PubMed - indexed for MEDLINE]Related articles

Complement and the atypical hemolytic uremic syndrome in children.

Loirat C, Noris M, Fremeaux-Bacchi V.

Pediatr Nephrol. 2008 Nov;23(11):1957-72. Epub 2008 Jul 2. Review.PMID: 18594873 [PubMed - indexed for MEDLINE]Related articles

Complement mutation-associated de novo thrombotic microangiopathy 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, Frémeaux-Bacchi V.

Am J Transplant. 2008 Aug;8(8):1694-701. Epub 2008 Jun 28.PMID: 18557729 [PubMed - indexed for MEDLINE]Related articles

B cell survival in intragraft tertiary lymphoid organs after rituximab therapy.

Thaunat O, Patey N, Gautreau C, Lechaton S, Fremeaux-Bacchi V, Dieu-Nosjean MC, Cassuto-Viguier E, Legendre C, Delahousse M, Lang P, Michel JB, Nicoletti A.

Transplantation. 2008 Jun 15;85(11):1648-53.PMID: 18551073 [PubMed - indexed for MEDLINE]Related articles

Inherited deficiency of membrane cofactor protein expression and varying manifestations of recurrent atypical hemolytic uremic syndrome in a sibling pair.

Couzi L, Contin-Bordes C, Marliot F, Sarrat A, Grimal P, Moreau JF, Merville P, Fremeaux-Bacchi V.

Am J Kidney Dis. 2008 Aug;52(2):e5-9. Epub 2008 Jun 2.PMID: 18514989 [PubMed - indexed for MEDLINE]Related articles

Hemolytic uremic syndrome recurrence after renal transplantation.

Loirat C, Fremeaux-Bacchi V.

Pediatr Transplant. 2008 Sep;12(6):619-29. Epub 2008 May 10.PMID: 18482212 [PubMed - indexed for MEDLINE]Related articles

Melkersson-Rosenthal syndrome and acquired C1 inhibitor deficiency.

Masson F, Barete S, Frémeaux-Bacchi V, Szpirglas H, Agbo-Godeau S, Chosidow O, Piette JC, Francès C.

Dermatology. 2008;217(2):114-20. Epub 2008 May 10.PMID: 18477847 [PubMed - indexed for MEDLINE]Related articles

Efficacy of plasma therapy in atypical hemolytic uremic syndrome with complement factor H mutations.

Lapeyraque AL, Wagner E, Phan V, Clermont MJ, Merouani A, Frémeaux-Bacchi V, Goodship TH, Robitaille P.

Pediatr Nephrol. 2008 Aug;23(8):1363-6. Epub 2008 Apr 19.PMID: 18425537 [PubMed - indexed for MEDLINE]Related articles

A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.

Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH.

J Immunol. 2008 May 1;180(9):6385-91.PMID: 18424762 [PubMed - indexed for MEDLINE]Related articlesFree article

Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 deposits.

Boyer O, Noël LH, Balzamo E, Guest G, Biebuyck N, Charbit M, Salomon R, Frémeaux-Bacchi V, Niaudet P.

Am J Kidney Dis. 2008 Apr;51(4):671-7.PMID: 18371543 [PubMed - indexed for MEDLINE]Related articles

Genotype-phenotype correlations for exudative age-related macular degeneration associated with homozygous HTRA1 and CFH genotypes.

Leveziel N, Zerbib J, Richard F, Querques G, Morineau G, Fremeaux-Bacchi V, Coscas G, Soubrane G, Benlian P, Souied EH.

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3090-4. Epub 2008 Mar 24.PMID: 18362109 [PubMed - indexed for MEDLINE]Related articlesFree article

Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndrome.

Kwon T, Dragon-Durey MA, Macher MA, Baudouin V, Maisin A, Peuchmaur M, Fremeaux-Bacchi V, Loirat C.

Nephrol Dial Transplant. 2008 Jun;23(6):2088-90. Epub 2008 Mar 8. No abstract available. PMID: 18326881 [PubMed - indexed for MEDLINE]Related articles

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR; European Working Party on the Genetics of HUS.

J Am Soc Nephrol. 2008 Mar;19(3):639-46. Epub 2008 Jan 30.PMID: 18235085 [PubMed - indexed for MEDLINE]Related articlesFree article

Disseminated tuberculosis in a patient with hereditary C1-inhibitor deficiency.

Kallel-Sellami M, Blouin J, Abdelmalek R, Laadhar L, Zerzeri Y, Barbouche MR, Tiouiri H, Chaabène T, Fremeaux-Bacchi V, Zitouni M, Makni S.

Infection. 2008 Mar;36(2):181-3. Epub 2007 Dec 28. No abstract available. PMID: 18165858 [PubMed - indexed for MEDLINE]Related articles

Does hemolytic uremic syndrome differ from thrombotic thrombocytopenic purpura?

Fakhouri F, Frémeaux-Bacchi V.

Nat Clin Pract Nephrol. 2007 Dec;3(12):679-87. Review.PMID: 18033227 [PubMed - indexed for MEDLINE]Related articles

Association of hereditary angioneurotic edema with spondylarthropathy: report of a case.

Klemmer N, Vittecoq O, Fremeaux-Bacchi V, Tron F.

Joint Bone Spine. 2008 Jan;75(1):95-6. Epub 2007 Aug 31. No abstract available. PMID: 17980638 [PubMed - indexed for MEDLINE]Related articles

Recurrence of hemolytic uremic syndrome after renal transplantation.

Seitz B, Albano L, Vocila F, Mzoughi S, Aoudia R, Guitard J, Ribes D, Vachet-Copponat H, Mourad G, Bienaimé F, Dahan P, Frémeaux-Bacchi V, Cassuto E.

Transplant Proc. 2007 Oct;39(8):2583-5.PMID: 17954182 [PubMed - indexed for MEDLINE]Related articles

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome.

Fang CJ, Fremeaux-Bacchi V, Liszewski MK, Pianetti G, Noris M, Goodship TH, Atkinson JP.

Blood. 2008 Jan 15;111(2):624-32. Epub 2007 Oct 3.PMID: 17914026 [PubMed - indexed for MEDLINE]Related articlesFree article

Hereditary complement deficiency and lupus: report of four Tunisian cases.

Kallel-Sellami M, Baili-Klila L, Zerzeri Y, Laadhar L, Blouin J, Abdelmalek R, Fremeaux-Bacchi V, Zitouni M, Makni S.

Ann N Y Acad Sci. 2007 Jun;1108:197-202.PMID: 17893986 [PubMed - indexed for MEDLINE]Related articles

Pediatric systemic lupus erythematosus with C1q deficiency.

Kallel-Sellami M, Baili-Klila L, Zerzeri Y, Laadhar L, Blouin J, Abdelmoula MS, Zitouni M, Fremeaux-Bacchi V, Ben Dridi MF, Makni S.

Ann N Y Acad Sci. 2007 Jun;1108:193-6.PMID: 17893985 [PubMed - indexed for MEDLINE]Related articles

Where next with atypical hemolytic uremic syndrome?

Jokiranta TS, Zipfel PF, Fremeaux-Bacchi V, Taylor CM, Goodship TJ, Noris M.

Mol Immunol. 2007 Sep;44(16):3889-900. Review.PMID: 17768107 [PubMed - indexed for MEDLINE]Related articles

Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome.

Kavanagh D, Richards A, Fremeaux-Bacchi V, Noris M, Goodship T, Remuzzi G, Atkinson JP.

Clin J Am Soc Nephrol. 2007 May;2(3):591-6. Epub 2007 Feb 14. Review. No abstract available. PMID: 17699467 [PubMed - indexed for MEDLINE]Related articlesFree article

Ocular involvement in hemolytic uremic syndrome due to factor H deficiency--are there therapeutic consequences?

Larakeb A, Leroy S, Frémeaux-Bacchi V, Montchilova M, Pelosse B, Dunand O, Deschênes G, Bensman A, Ulinski T.

Pediatr Nephrol. 2007 Nov;22(11):1967-70. Epub 2007 Jul 10.PMID: 17619907 [PubMed - indexed for MEDLINE]Related articles

Recurrence of HUS due to CD46/MCP mutation after renal transplantation: a role for endothelial microchimerism.

Frémeaux-Bacchi V, Arzouk N, Ferlicot S, Charpentier B, Snanoudj R, Dürrbach A.

Am J Transplant. 2007 Aug;7(8):2047-51.PMID: 17617869 [PubMed - indexed for MEDLINE]Related articles

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

Sellier-Leclerc AL, Fremeaux-Bacchi V, Dragon-Durey MA, Macher MA, Niaudet P, Guest G, Boudailliez B, Bouissou F, Deschenes G, Gie S, Tsimaratos M, Fischbach M, Morin D, Nivet H, Alberti C, Loirat C; French Society of Pediatric Nephrology.

J Am Soc Nephrol. 2007 Aug;18(8):2392-400. Epub 2007 Jun 28.PMID: 17599974 [PubMed - indexed for MEDLINE]Related articlesFree article

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

Kavanagh D, Richards A, Noris M, Hauhart R, Liszewski MK, Karpman D, Goodship JA, Fremeaux-Bacchi V, Remuzzi G, Goodship TH, Atkinson JP.

Mol Immunol. 2008 Jan;45(1):95-105. Epub 2007 Jun 26.PMID: 17597211 [PubMed - indexed for MEDLINE]Related articles

Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisited.

Rameix-Welti MA, Régnier CH, Bienaimé F, Blouin J, Schifferli J, Fridman WH, Sautès-Fridman C, Frémeaux-Bacchi V.

Eur J Immunol. 2007 May;37(5):1377-85.PMID: 17407100 [PubMed - indexed for MEDLINE]Related articles

[Hereditary hemolytic uremic syndromes and thrombotic thrombocytopenic purpura]

Loirat C, Sellier-Leclerc AL, Frémeaux-Bacchi V, Dragon-Durey A, Girma JP, Veyradier A.

Nephrol Ther. 2006 Jan;2 Suppl 2:S149-61. Review. French. PMID: 17373216 [PubMed - indexed for MEDLINE]Related articles

Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy.

Fremeaux-Bacchi V, Sanlaville D, Menouer S, Blouin J, Dragon-Durey MA, Fischbach M, Vekemans M, Fridman WH.

Am J Kidney Dis. 2007 Feb;49(2):323-9.PMID: 17261436 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17089378 [PubMed - indexed for MEDLINE]Related articles

A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect the function of factor I in complement regulation.

Nilsson SC, Karpman D, Vaziri-Sani F, Kristoffersson AC, Salomon R, Provot F, Fremeaux-Bacchi V, Trouw LA, Blom AM.

Mol Immunol. 2007 Mar;44(8):1835-44. Epub 2006 Nov 7.PMID: 17084897 [PubMed - indexed for MEDLINE]Related articles

Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome.

Servais A, Frémeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grünfeld JP, Lesavre P, Noël LH, Fakhouri F.

J Med Genet. 2007 Mar;44(3):193-9. Epub 2006 Oct 3.PMID: 17018561 [PubMed - indexed for MEDLINE]Related articles

Secondary failure of plasma therapy in factor H deficiency.

Nathanson S, Ulinski T, Frémeaux-Bacchi V, Deschênes G.

Pediatr Nephrol. 2006 Nov;21(11):1769-71. Epub 2006 Aug 15.PMID: 16909242 [PubMed - indexed for MEDLINE]Related articles

[Combined-heterozygous deficiency of complement C7 in a patient with recurrent meningitis]

Schirinzi R, Lantin JP, Frémeaux-Bacchi V, Schifferli JA, Trendelenburg M.

Med Klin (Munich). 2006 Aug 15;101(8):655-8. German. PMID: 16896572 [PubMed - indexed for MEDLINE]Related articles

Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome.

Richards A, Kathryn Liszewski M, Kavanagh D, Fang CJ, Moulton E, Fremeaux-Bacchi V, Remuzzi G, Noris M, Goodship TH, Atkinson JP.

Mol Immunol. 2007 Jan;44(1-3):111-22. Epub 2006 Aug 1. Review.PMID: 16882452 [PubMed - indexed for MEDLINE]Related articles

High prevalence of anti-C1q antibodies in biopsy-proven active lupus nephritis.

Trendelenburg M, Lopez-Trascasa M, Potlukova E, Moll S, Regenass S, Frémeaux-Bacchi V, Martinez-Ara J, Jancova E, Picazo ML, Honsova E, Tesar V, Sadallah S, Schifferli J.

Nephrol Dial Transplant. 2006 Nov;21(11):3115-21. Epub 2006 Jul 28.PMID: 16877491 [PubMed - indexed for MEDLINE]Related articlesFree article