Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome-Reference-Cited by-同舟云学术

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

Published:2008-12-15 Issue:13 Volume:112 Page:4948-4952
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Frémeaux-Bacchi Veronique¹,Miller Elizabeth C.²,Liszewski M. Kathryn²,Strain Lisa³,Blouin Jacques¹,Brown Alison L.⁴,Moghal Nadeem⁵,Kaplan Bernard S.⁶,Weiss Robert A.⁷,Lhotta Karl⁸,Kapur Gaurav⁹,Mattoo Tej⁹,Nivet Hubert¹⁰,Wong William¹¹,Gie Sophie¹²,de Ligny Bruno Hurault¹³,Fischbach Michel¹⁴,Gupta Ritu²,Hauhart Richard²,Meunier Vincent¹⁵,Loirat Chantal¹⁶,Dragon-Durey Marie-Agnès¹,Fridman Wolf H.¹,Janssen Bert J. C.¹⁷,Goodship Timothy H. J.¹⁸,Atkinson John P.²

Affiliation:

1. Service d'Immunologie Biologique, Hôpital Européen Georges Pompidou, Paris, and INSERM UMRS 872, Cordeliers Research Center, Paris, France;

2. Division of Rheumatology, Washington University School of Medicine, St Louis, MO;

3. Northern Molecular Genetics Service and

4. Departments of Renal Medicine and

5. Paediatric Nephrology, Newcastle upon Tyne Hospitals National Health Service Foundation Trust, Newcastle upon Tyne, United Kingdom;

6. Division of Nephrology, Children's Hospital of Philadelphia, PA;

7. Paediatric Nephrology, Maria Fareri Children's Hospital at Westchester Medical Center, Valhalla, NY;

8. Division of Clinical Nephrology, Department of Internal Medicine, Innsbruck University Hospital, Innsbruck, Austria;

9. Pediatric Nephrology, Children's Hospital of Michigan, Detroit;

10. Unité de Néphrologie Pédiatrique, Centre Hospitalier de Tours, Tours, France;

11. Starship Children's Hospital, Auckland, New Zealand;

12. Département de Médecine de l'Enfant et de l'Adolescent, Centre Hospitalier Universitaire Rennes, Hôpital Sud, Rennes, France;

13. Service de Néphrologie Transplantation Renale, Hôpital Clemenceau, Caen, France;

14. Service de Pédiatrie, Hôpital de Hautepierre, Strasbourg, France;

15. Service de Medecine Interne, Hôpital Robert Boulin, Libourne, France;

16. Service de Néphrologie Pédiatrique, Hôpital Robert-Debré, Paris, France;

17. Crystal and Structural Chemistry, Bijvoet Center for Biomolecular Research, Faculty of Science, Utrecht University, Utrecht, The Netherlands; and

18. Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom

Abstract

AbstractAtypical hemolytic uremic syndrome (aHUS) is a disease of complement dysregulation. In approximately 50% of patients, mutations have been described in the genes encoding the complement regulators factor H, MCP, and factor I or the activator factor B. We report here mutations in the central component of the complement cascade, C3, in association with aHUS. We describe 9 novel C3 mutations in 14 aHUS patients with a persistently low serum C3 level. 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.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/112/13/4948/1286863/zh802508004948.pdf

Reference24 articles.

1. Genetic studies into inherited and sporadic haemolytic uraemic syndrome.;Warwicker;Kidney Int,1998

2. The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20.;Caprioli;J Am Soc Nephrol,2001

3. Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.;Perez-Caballero;Am J Hum Genet,2001

4. Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition.;Richards;Am J Hum Genet,2001

5. Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases.;Dragon-Durey;J Am Soc Nephrol,2004

Cited by 361 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Recurrent complement-mediated Hemolytic uremic syndrome after kidney transplantation;Transplantation Reviews;2024-07

2. A selective alternative pathway complement inhibitor for treatment of paroxysmal nocturnal hemoglobinuria;2024-06-28

3. Atypical Hemolytic Uremic Syndrome: A Nationwide Colombian Pediatric Series;Global Pediatric Health;2024-01

4. Low-frequency inherited complement receptor variants are associated with purpura fulminans;Blood Journal;2023-12-14

5. Life-Threatening Diffuse Alveolar Hemorrhage and Graft Failure in Atypical Hemolytic Uremic Syndrome with C3 Gene Mutation following Kidney Transplant;Nephron;2023-11-24