Genomes and Genes
- [Investigation of the complement system in clinical practice]Veronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, 20 40, rue Leblanc, 75908 Paris Cedex 15
Ann Med Interne (Paris) 154:529-40. 2003..Complete lack of CH50 associated with normal C3 antigen is a strong indication for complement deficiency and should be followed up with further tests to determine which component is missing...
- Complement factor I: a susceptibility gene for atypical haemolytic uraemic syndromeV Fremeaux-Bacchi
Service d Immunologie Biologique, Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
J Med Genet 41:e84. 2004
- Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndromeVeronique Fremeaux-Bacchi
Assitance Publique Hôpitaux de Paris, Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, Paris Cedex 15, France
J Am Soc Nephrol 17:2017-25. 2006....
- Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathiesAude Servais
Department of Nephrology, Hôpital Necker Enfants Malades AP HP, Paris, France
Kidney Int 82:454-64. 2012..The localization of the C3 deposits may be under the influence of MCP expression...
- Heterozygous and homozygous factor h deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 casesMarie Agnès Dragon-Durey
INSERM U430, Institut des Cordeliers, Paris, France
J Am Soc Nephrol 15:787-95. 2004..This report emphasizes the variability in the clinical progression of kidney diseases associated with FH deficiencies. Genetic analysis reveals the molecular abnormalities associated with FH deficiencies to be polymorphous...
- Differential impact of complement mutations on clinical characteristics in atypical hemolytic uremic syndromeAnne Laure Sellier-Leclerc
Service de Nephrologie, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, 48 Boulevard Serurier, 75 019 Paris, France
J Am Soc Nephrol 18:2392-400. 2007..New therapies are urgently needed, and further research should elucidate the unexplained HUS group...
- Pulse cyclophosphamide therapy and clinical remission in atypical hemolytic uremic syndrome with anti-complement factor H autoantibodiesOlivia Boyer
Néphrologie Pédiatrique et centre de référence MARHEA, Hopital Necker Enfants Malades, APHP, Universite Paris Descartes, Paris, France
Am J Kidney Dis 55:923-7. 2010..Cyclophosphamide pulses with PE may lead to a prolonged decrease in CFH antibody titers and a favorable outcome of atypical hemolytic uremic syndrome and kidney function...
- Membranoproliferative glomerulonephritis with C3NeF and genetic complement dysregulationValerie Leroy
Pediatric Nephrology Department, Universite Paris 7, Hopital Robert Debre, Paris, France
Pediatr Nephrol 26:419-24. 2011..These observations highlight the possible combination of genetic and acquired defect in complement control in various subtypes of MPGN, a finding that may influence the treatment strategy in some patients...
- Anti-Factor H autoantibodies associated with atypical hemolytic uremic syndromeMarie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75015 Paris, France
J Am Soc Nephrol 16:555-63. 2005..This new mechanism of functional FH deficiency may lead to the design of new approaches of diagnosis and treatment with a particular interest in plasma exchanges or immunosuppressive therapies...
- A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of functionLubka T Roumenina
Cordeliers Research Center, INSERM Unité Mixte de Recherche en Santé, Paris, France
Blood 119:4182-91. 2012..These results demonstrate that this C3 mutation, especially when associated with an at-risk FH and/or MCP haplotypes, becomes pathogenic following an inflammatory endothelium-damaging event...
- Factor H, membrane cofactor protein, and factor I mutations in patients with hemolysis, elevated liver enzymes, and low platelet count syndromeFadi Fakhouri
Department of Nephrology, Assistance Publique Hopitaux de Paris, Hopital Necker, Universite Paris Descartes, INSERM U845, Paris, France
Blood 112:4542-5. 2008..Our results suggest that an abnormal control of the complement alternative pathway is a risk factor for the occurrence of HELLP syndrome...
- Prevalence of monoclonal gammopathy in patients presenting with acquired angioedema type 2Veronique Fremeaux-Bacchi
Departement d Immunologie, Hopital Europeen Georges Pompidou, Paris, France
Am J Med 113:194-9. 2002..We studied the clinical features, complement profiles, and associated diseases in 19 new patients with diagnosed acquired angioedema type 2...
- Anti-factor H autoantibodies assayMarie Agnès Dragon-Durey
Cordeliers Research Center, INSERM UMRS 872, Paris, France
Methods Mol Biol 1100:249-56. 2014..Here we describe the ELISA assay allowing the detection of these autoantibodies and report the analysis which can be performed concomitantly to improve the diagnosis...
- Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutationVincent Guigonis
Department of Pediatric Nephrology, Hopital Armand Trousseau, Paris, France
Am J Kidney Dis 45:588-95. 2005..cblC disease is a cause of hemolytic uremic syndrome (HUS), which has been primarily described in neonates and infants with severe renal and neurological lesions...
- Neurological involvement in a child with atypical hemolytic uremic syndromeBérengère Koehl
Pediatric Nephrology, Hopital Necker Enfants Malades, Universite Paris Descartes, Paris, France
Pediatr Nephrol 25:2539-42. 2010..In conclusion, brain MRI allows differentiating thrombotic microangiopathy lesions from RPLS in atypical HUS, which is crucial since lesions may be reversible with plasmatherapy...
- Clinical features of anti-factor H autoantibody-associated hemolytic uremic syndromeMarie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
J Am Soc Nephrol 21:2180-7. 2010..Early specific treatment may lead to favorable outcomes. These data should improve the recognition and diagnosis of this form of aHUS and help identify patients at high risk of a poor outcome...
- Mutations in components of complement influence the outcome of Factor I-associated atypical hemolytic uremic syndromeFrank Bienaime
Cordeliers Research Center, INSERM UMRS 872, Paris, France
Kidney Int 77:339-49. 2010..Our results emphasize the necessity of genetic screening for all susceptibility factors in patients with aHUS...
- Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adultsVeronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 20 40 rue Leblanc, Paris Cedex 15, France
Clin J Am Soc Nephrol 8:554-62. 2013..This study assessed the disease presentation and outcome in a nationwide cohort of patients with aHUS according to the age at onset and the underlying complement abnormalities...
- Complement activation by heme as a secondary hit for atypical hemolytic uremic syndromeMarie Frimat
INSERM, Unité Mixte de Recherche en Santé 872, Cordeliers Research Center, 15 rue de l Ecole de Medecine, Paris, France
Blood 122:282-92. 2013..These results strongly suggest that hemolysis-derived heme represents a common secondary hit amplifying endothelial damage and thrombosis in aHUS. ..
- Atypical haemolytic uraemic syndrome and mutations in complement regulator genesMarie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, AP HP, 20 rue Leblanc, 75015, Paris, France
Springer Semin Immunopathol 27:359-74. 2005..The recent progress made in the determination of susceptibility factors for atypical HUS has permitted the development of new diagnostic tests and may eventually lead to new specific treatments to block the pathological process...
- Complement-binding anti-HLA antibodies and kidney-allograft survivalAlexandre Loupy
Paris Translational Research Center for Organ Transplantation, INSERM Unité 970, Department of Kidney Transplantation, Hopital Necker, Universite Paris Descartes, and Assistance Publique Hôpitaux de Paris AP HP, Paris, France
N Engl J Med 369:1215-26. 2013..We investigated whether the complement-binding capacity of anti-HLA antibodies plays a role in kidney-allograft failure...
- Functional evaluation of factor H genetic and acquired abnormalities: application for atypical hemolytic uremic syndrome (aHUS)Lubka T Roumenina
Cordeliers Research Center, INSERM UMRS 872, Universite Pierre et Marie Curie, and Universite Paris Descartes, Paris, France
Methods Mol Biol 1100:237-47. 2014..It can be applied for the characterization of the underlying complement defect in aHUS, based on spontaneous lysis of non-sensitized sheep erythrocytes in contact with patients' plasma or serum. ..
- Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomyVeronique Fremeaux-Bacchi
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, France
Am J Kidney Dis 49:323-9. 2007..The outcome of the disease reported here indicates that MCP mutation and complete paternal uniparental disomy of chromosome 1 could have an additive effect in determining the severity of the HUS phenotype...
- Complement factor H deficiency and posttransplantation glomerulonephritis with isolated C3 depositsOlivia Boyer
Pediatric Nephrology, Hopital Necker Enfants Malades, Universite Paris Descartes, Paris, France
Am J Kidney Dis 51:671-7. 2008..Several factors could influence the disease, such as degree of CFH haploinsufficiency and other complement alternative pathway regulator abnormalities, such as a membrane cofactor protein polymorphism...
- Targeted strategies in the prevention and management of atypical HUS recurrence after kidney transplantationJulien Zuber
Universite Paris Descartes, Sorbonne Paris Cité, Paris, France Service de Transplantation Rénale adulte, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, France Electronic address
Transplant Rev (Orlando) 27:117-25. 2013..A global therapeutic approach should thus attempt to reduce exposure to these triggers. ..
- Hereditary complement C7 deficiency in nine families: subtotal C7 deficiency revisitedMarie Anne Rameix-Welti
Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, Paris, France
Eur J Immunol 37:1377-85. 2007..Our results provide evidence that R499S represents a loss-of-function polymorphism of C7 due to a defective folding of the protein...
- Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndromeAude Servais
Department of Nephrology, Necker Hospital, Paris, France
J Med Genet 44:193-9. 2007..In some instances, HUS may be associated with an unusual glomerulonephritis with isolated C3 deposits (glomerulonephritis C3). We determined whether HUS and glomerulonephritis C3 share common genetic susceptibility factors...
- Atypical hemolytic uremic syndrome associated with mutations in complement regulator genesMoglie Le Quintrec
Service de Nephrologie, Hopital Foch, 40 rue Worth, Suresnes, Paris, France
Semin Thromb Hemost 36:641-52. 2010..This allows a potentially more tailored approach in treating aHUS patients...
- Mutations in complement C3 predispose to development of atypical hemolytic uremic syndromeVeronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France
Blood 112:4948-52. 2008..We have demonstrated that 5 of these mutations are gain-of-function and 2 are inactivating. This establishes C3 as a susceptibility factor for aHUS...
- Long-term remission of atypical HUS with anti-factor H antibodies after cyclophosphamide pulsesGwenaëlle Sana
Nephrologie Pediatrique, Hopital Necker Enfants Malades, MARHEA, Assistance Publique Hopitaux de Paris APHP, INSERM U983, IMAGINE, Université Paris Descartes Sorbonne Paris Cité, Paris, France
Pediatr Nephrol 29:75-83. 2014..Anti-complement factor H (CFH) autoantibody (Ab)-associated atypical hemolytic uremic syndrome (aHUS) has a poor prognosis, but no consensus exists on its treatment...
- [Hereditary hemolytic uremic syndromes and thrombotic thrombocytopenic purpura]Chantal Loirat
Service de Nephrologie, Hopital Robert Debre, 48 Boulevard Serrurier, 75019 Paris, Assistance Publique Hopitaux de Paris, Paris, France
Nephrol Ther 2:S149-61. 2006....
- Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndromeLubka T Roumenina
Cordeliers Research Center, INSERM, Unite Mixte de Recherche en Santé UMRS 872, Paris, France
Blood 114:2837-45. 2009..Therefore, risk factors for aHUS are not only mutations leading to loss of regulation, but also mutations, resulting in hyperactive C3 convertase...
- [Complement deficiencies and human diseases]Jérémie Rosain
Immunologie Biologique, Hopital Europeen Georges Pompidou, Assistance Publique Hopitaux de Paris, Paris, France
Ann Biol Clin (Paris) 72:271-80. 2014..The discovery of a congenital deficiency requires a familial study and a prophylaxis. In this article, we review the complement cascade, the laboratory tests to explore it, and the main diseases associated with complement deficiencies. ..
- Physiological and therapeutic complement regulators in kidney transplantationLubka T Roumenina
Hopital Europeen Georges Pompidou, Service d Immunologie Biologique, Paris, France
Curr Opin Organ Transplant 18:421-9. 2013..This review will summarize the key contribution of complement regulators in the immune response to an allograft...
- [Hemolytic-uremic syndrome: what is the mechanism?]Veronique Fremeaux-Bacchi
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, 75908 Paris Cedex 15
Rev Prat 58:2093-6. 2008..In this context, the introduction of gene study considerably accelerated advances...
- Severe ADAMTS13 deficiency in adult idiopathic thrombotic microangiopathies defines a subset of patients characterized by various autoimmune manifestations, lower platelet count, and mild renal involvementPaul Coppo
Service d Hématologie et Faculté de Médecine, Hopital Saint Antoine, Paris, France
Medicine (Baltimore) 83:233-44. 2004..Indeed, apparently idiopathic thrombotic thrombocytopenic purpura may be considered a specific autoimmune disease...
- Non-atheromatous arterial stenoses in atypical haemolytic uraemic syndrome associated with complement dysregulationChantal Loirat
Pediatric Nephrology Department, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Universite Paris 7, Paris, France
Nephrol Dial Transplant 25:3421-5. 2010..A child, who presented atypical haemolytic uraemic syndrome (aHUS) at the age of 1 month, developed cerebral ischaemic events at the age of 10 years...
- Hemolytic uremic syndrome recurrence after renal transplantationChantal Loirat
Assistance Publique, Hopitaux de Paris, Hopital Robert Debre, Universite Paris, Faculté de Médecine Denis Diderot, Service de Nephrologie, Paris, France
Pediatr Transplant 12:619-29. 2008..Kidney or kidney + liver transplantation with concomitant plasmatherapy need to be evaluated by prospective trials in patients with hereditary complement abnormalities...
- [Combined-heterozygous deficiency of complement C7 in a patient with recurrent meningitis]Rebecca Schirinzi
Innere Medizin B, Universitatsspital Basel, Basel, Switzerland, and Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, Paris, France
Med Klin (Munich) 101:655-8. 2006..e., c5-c9...
- Complement alternative pathway acts as a positive feedback amplification of neutrophil activationLaurent Camous
INSERM U845, Universite Rene Descartes, Hopital Necker, 161 rue de Sevres, Paris, France
Blood 117:1340-9. 2011..This mechanism, possibly required for effective host defense, may be relevant to complement involvement in neutrophil-mediated diseases...
- [Complement component deficiencies in human disease]Marie Agnès Dragon-Durey
Service d Immunologie Biologique, Hopital Europeen Georges Pompidou, AP HP, Paris 75
Presse Med 35:861-70. 2006....
- A clinicopathologic study of thrombotic microangiopathy in IgA nephropathyKhalil El Karoui
Department of Pathology, Hopital Europeen Georges Pompidou, 21, rue Leblanc 75015, Paris, France
J Am Soc Nephrol 23:137-48. 2012..Although the pathophysiologic mechanisms involved remain undetermined, the current study rules out severe hypertension or advanced renal disease as sole causes...
- Atypical hemolytic uremic syndromeChantal Loirat
Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris VII, Pediatric Nephrology Department, Paris, France
Orphanet J Rare Dis 6:60. 2011..Half of factor I-HUS progress to end-stage renal failure. Conversely, most patients with MCP-HUS have preserved renal function. Anti-factor H antibodies-HUS has favourable outcome if treated early...
- Heme interacts with c1q and inhibits the classical complement pathwayLubka T Roumenina
Centre de Recherche des Cordeliers, Universite Pierre et Marie Curie, Paris 6, UMR S 872, Paris, France
J Biol Chem 286:16459-69. 2011..Heme may play a role at sites of excessive tissue damage and hemolysis where large amounts of free heme are released...
- Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutationsFadi Fakhouri
Department of Nephrology and UMR 643, CHU de Nantes, Paris, France
J Am Soc Nephrol 21:859-67. 2010..8% and 7.7%, respectively. Better understanding of complement dysregulation in pregnancy complications is essential, especially to guide development of pharmacologic agents to modulate this system...
- Predictive features of severe acquired ADAMTS13 deficiency in idiopathic thrombotic microangiopathies: the French TMA reference center experiencePaul Coppo
Service d Hématologie et de Thérapie Cellulaire, AP HP, Hopital Saint Antoine, Paris, France
PLoS ONE 5:e10208. 2010..3%, sensitivity of 98.8%, and specificity of 48.1%. Our criteria should be useful to identify rapidly newly diagnosed patients with an acquired ADAMTS13 deficiency to better tailor treatment for different pathophysiological groups...
- Does hemolytic uremic syndrome differ from thrombotic thrombocytopenic purpura?Fadi Fakhouri
Department of Nephrology, Universite Paris Descartes, Assistance Publique Hopitaux de Paris, Hopital Necker, Paris, France
Nat Clin Pract Nephrol 3:679-87. 2007....
- Complement and the atypical hemolytic uremic syndrome in childrenChantal Loirat
Hopitaux de Paris, Universite Paris 7, Hopital Robert Debre, Pediatric Nephrology, Paris, France
Pediatr Nephrol 23:1957-72. 2008..New therapies such as factor H concentrate or complement inhibitors offer hope for the future...
- Human immunodeficiency virus-associated thrombotic microangiopathies: clinical characteristics and outcome according to ADAMTS13 activityS Malak
Service d Hématologie et de Thérapie Cellulaire, AP HP, Hôpital Saint Antoine and UPMC Université Paris 06, Paris, France
Scand J Immunol 68:337-44. 2008..04). In conclusion, HIV-associated TMA with severe ADAMTS13 deficiency have less AIDS-related complications and a higher CD4(+) T cell count. TMA prognosis is better and comparable to this of idiopathic forms...
- Anti-factor H autoantibody-associated hemolytic uremic syndrome: the earlier diagnosed and treated, the betterChantal Loirat
1 Department of Pediatric Nephrology, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France 2 Université Paris Diderot, Sorbonne Paris Cité, Paris, France
Kidney Int 85:1019-22. 2014....
- Successful pre-transplant management of a patient with anti-factor H autoantibodies-associated haemolytic uraemic syndromeTheresa Kwon
Pediatric Nephrology, Hopital Robert Debre, Paris, France
Nephrol Dial Transplant 23:2088-90. 2008
- Obstetric nephrology: AKI and thrombotic microangiopathies in pregnancyFadi Fakhouri
Institut de Transplantation, Urologie et Néphrologie, Department of Nephrology and Immunology, Institut National de la Santé et de la Recherche Médicale UMR S 1064, Centre Hospitalo Universitaire de Nantes, Nantes, France
Clin J Am Soc Nephrol 7:2100-6. 2012....