David Kavanagh

Summary

Affiliation: University of Newcastle
Country: UK

Publications

  1. pmc Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
    Jessica Caprioli
    Mario Negri Institute for Pharmacologic Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Bergamo, Italy
    Blood 108:1267-79. 2006
  2. ncbi Atypical hemolytic uremic syndrome
    David Kavanagh
    The Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Curr Opin Hematol 17:432-8. 2010
  3. pmc Complement therapy in atypical haemolytic uraemic syndrome (aHUS)
    Edwin K S Wong
    The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mol Immunol 56:199-212. 2013
  4. pmc Atypical hemolytic uremic syndrome
    David Kavanagh
    The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Electronic address
    Semin Nephrol 33:508-30. 2013
  5. pmc Genetics and complement in atypical HUS
    David Kavanagh
    The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Pediatr Nephrol 25:2431-42. 2010
  6. doi Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome
    David Kavanagh
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Kidney Int 81:11-3. 2012
  7. ncbi Does complement factor B have a role in the pathogenesis of atypical HUS?
    David Kavanagh
    Washington University School of Medicine, Campus Box 8045, St Louis, MO 63110, USA
    Mol Immunol 43:856-9. 2006
  8. ncbi Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome
    David Kavanagh
    Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Clin J Am Soc Nephrol 2:591-6. 2007
  9. pmc New roles for the major human 3'-5' exonuclease TREX1 in human disease
    David Kavanagh
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Cell Cycle 7:1718-25. 2008
  10. pmc Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32
    Lucy V Holmes
    Institutes of Genetic and Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 8:e60352. 2013

Collaborators

Detail Information

Publications33

  1. pmc Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome
    Jessica Caprioli
    Mario Negri Institute for Pharmacologic Research, Clinical Research Center for Rare Diseases, Aldo e Cele Daccò, Bergamo, Italy
    Blood 108:1267-79. 2006
    ..Hopefully this will translate into improved management and therapy of patients and will provide the way to design tailored treatments...
  2. ncbi Atypical hemolytic uremic syndrome
    David Kavanagh
    The Institute of Human Genetics, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK
    Curr Opin Hematol 17:432-8. 2010
    ..Many different predisposing genetic factors resulting in complement overactivation have been described in aHUS. Additionally, autoantibodies against complement regulatory proteins have been reported...
  3. pmc Complement therapy in atypical haemolytic uraemic syndrome (aHUS)
    Edwin K S Wong
    The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mol Immunol 56:199-212. 2013
    ..In the last 4 years the introduction of the complement inhibitor Eculizumab has revolutionised the management of aHUS. In this review we shall discuss the available literature on treatment strategies to date. ..
  4. pmc Atypical hemolytic uremic syndrome
    David Kavanagh
    The Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Electronic address
    Semin Nephrol 33:508-30. 2013
    ..The successful trials of the complement inhibitor eculizumab in the treatment of atypical HUS will revolutionize disease management. ..
  5. pmc Genetics and complement in atypical HUS
    David Kavanagh
    The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Pediatr Nephrol 25:2431-42. 2010
    ..More recently, gain of function mutations in the complement components C3 and Factor B have been seen. This review focuses on the genetic causes of aHUS, their functional consequences, and clinical effect...
  6. doi Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome
    David Kavanagh
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Kidney Int 81:11-3. 2012
    ..Allied research groups have analyzed these VUSs in aHUS...
  7. ncbi Does complement factor B have a role in the pathogenesis of atypical HUS?
    David Kavanagh
    Washington University School of Medicine, Campus Box 8045, St Louis, MO 63110, USA
    Mol Immunol 43:856-9. 2006
    ..In conclusion, in this small series of aHUS patients we found no evidence that fB has a major role in the pathogenesis of aHUS...
  8. ncbi Screening for complement system abnormalities in patients with atypical hemolytic uremic syndrome
    David Kavanagh
    Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Clin J Am Soc Nephrol 2:591-6. 2007
  9. pmc New roles for the major human 3'-5' exonuclease TREX1 in human disease
    David Kavanagh
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Cell Cycle 7:1718-25. 2008
    ..In this review, we discuss the putative functions of TREX1 in relationship to the clinical, genetic and functional characteristics of each of these conditions...
  10. pmc Determining the population frequency of the CFHR3/CFHR1 deletion at 1q32
    Lucy V Holmes
    Institutes of Genetic and Cellular Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    PLoS ONE 8:e60352. 2013
    ..This emphasises the importance of identifying copy number polymorphism in disease...
  11. pmc Factor I autoantibodies in patients with atypical hemolytic uremic syndrome: disease-associated or an epiphenomenon?
    David Kavanagh
    Institutes of Cellular and Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Clin J Am Soc Nephrol 7:417-26. 2012
    ..In addition, factor H autoantibodies have been reported in ∼10% of patients with atypical hemolytic uremic syndrome. This study searched for the presence of factor I autoantibodies in atypical hemolytic uremic syndrome...
  12. ncbi Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome
    David Kavanagh
    Division of Rheumatology, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Immunol 45:95-105. 2008
    ..The excessive complement activation for a given degree of damage may result in generation of a procoagulant state and aHUS...
  13. doi Factor H autoantibodies in membranoproliferative glomerulonephritis
    Timothy H J Goodship
    Institutes of Cellular Medicine and Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK
    Mol Immunol 52:200-6. 2012
    ..Antibody depleting therapy may have a role in such patients and we suggest that screening for factor H autoantibodies should be undertaken in all patients with MPGN...
  14. doi Advances in understanding of pathogenesis of aHUS and HELLP
    Celia J Fang
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, MO 63110, USA
    Br J Haematol 143:336-48. 2008
    ....
  15. ncbi Implications of the initial mutations in membrane cofactor protein (MCP; CD46) leading to atypical hemolytic uremic syndrome
    Anna Richards
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, Campus Box 8045, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Mol Immunol 44:111-22. 2007
    ..This highlights the importance of defining and characterizing the underlying genetic defects in patients with aHUS...
  16. pmc 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
    Iain Moore
    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, United Kingdom
    Blood 115:379-87. 2010
    ..In 5 patients mutations were identified: 1 in CFH, 1 in CFI, 1 in CD46, and 2 in C3. The latter observation emphasizes that multiple concurrent factors may be necessary in individual patients for disease manifestation...
  17. ncbi Inherited complement regulatory protein deficiency predisposes to human disease in acute injury and chronic inflammatory statesthe examples of vascular damage in atypical hemolytic uremic syndrome and debris accumulation in age-related macular degeneratio
    Anna Richards
    Washington University School of Medicine, St Louis, Missouri, USA
    Adv Immunol 96:141-77. 2007
    ..A response to acute injury or chronic debris accumulation must be appropriately balanced. In either case, too much activation or too little regulation promotes undesirable tissue damage and human disease...
  18. ncbi Atypical haemolytic uraemic syndrome
    David Kavanagh
    Washington University School of Medicine, St Louis, MO 63110, USA
    Br Med Bull 77:5-22. 2006
    ..Discovery of these mutations has revealed important genotype-phenotype correlations. MCP-HUS has a better prognosis and a better outcome after transplantation than either CFH-HUS or IF-HUS...
  19. ncbi Hemolytic uremic syndrome: an example of insufficient complement regulation on self-tissue
    John P Atkinson
    Washington University School of Medicine, Department of Medicine Rheumatology Division, 660 South Euclid Avenue, Campus Box 8045, St Louis, MO 63110, USA
    Ann N Y Acad Sci 1056:144-52. 2005
    ..By contrast, MCP deficiency can be corrected in part by a renal allograft. However, caution in the use of live-related donations is needed because of the high rates of incomplete penetrance of the described mutations...
  20. ncbi Complement regulatory genes and hemolytic uremic syndromes
    David Kavanagh
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri, USA
    Annu Rev Med 59:293-309. 2008
    ..Current treatment is plasma infusion/exchange, but complement inhibitor therapy provides hope for the future...
  21. ncbi C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
    Anna Richards
    Department of Medicine, Division of Rheumatology, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Nat Genet 39:1068-70. 2007
    ..These data have implications for the maintenance of vascular integrity in the degenerative cerebral microangiopathies leading to stroke and dementias...
  22. doi Haemolytic uraemic syndrome
    David Kavanagh
    The Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK
    Nephron Clin Pract 118:c37-42. 2011
    ..In this situation, combined liver-kidney transplantation has been suggested to correct the underlying genetic defect. Newer agents, such as the complement inhibitor eculizumab, may herald a new era in the treatment of aHUS...
  23. doi Atypical hemolytic uremic syndrome, genetic basis, and clinical manifestations
    David Kavanagh
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom
    Hematology Am Soc Hematol Educ Program 2011:15-20. 2011
    ..However, improving results with combined liver-kidney transplantation and the advent of complement inhibitors such as eculizumab offer hope that the prognosis for aHUS will improve in future years...
  24. ncbi Acute respiratory infection in a renal transplant recipient
    Anna Richards
    The Freeman Hospital, Newcastle upon Tyne, UK
    Nephrol Dial Transplant 20:2848-50. 2005
  25. ncbi Restless legs syndrome in patients on dialysis
    David Kavanagh
    Department of Nephrology, Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, England, UK
    Am J Kidney Dis 43:763-71. 2004
    ..The progress made to date in unraveling the pathophysiological state of uremic RLS should stimulate additional research toward targeted therapy...
  26. ncbi The influence of pre-operative electrocardiographic abnormalities and cardiovascular risk factors on patient and graft survival following renal transplantation
    Y Mun Woo
    Renal Unit, Western Infirmary, Glasgow, UK
    J Nephrol 15:380-6. 2002
    ..Moreover, ECG abnormalities and "conventional" cardiovascular risk factors are associated with poor graft and patient outcome and represent potentially remediable risk factors for renal transplant recipients...
  27. ncbi Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical hemolytic uremic syndrome
    Veronique 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
    ....
  28. pmc Extended haplotypes in the complement factor H (CFH) and CFH-related (CFHR) family of genes protect against age-related macular degeneration: characterization, ethnic distribution and evolutionary implications
    Gregory S Hageman
    Department of Ophthalmology and Visual Sciences, Cell Biology and Functional Genomics Laboratory, The University of Iowa, 11190E PFP, 200 Hawkins Drive, Iowa City, Iowa 52240, USA
    Ann Med 38:592-604. 2006
    ..Aims and Methods. In this study, the structural and evolutionary relationships between these genes and AMD was refined using a combined genetic, molecular and immunohistochemical approach...
  29. ncbi Membrane cofactor protein and factor I: mutations and transplantation
    David Kavanagh
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Semin Thromb Hemost 32:155-9. 2006
    ..Combined liver/kidney transplantation for patients known to have a CFH mutation has not been successful to date. There is optimism that in the future, targeted complement inhibitors will be of major therapeutic benefit in this condition...
  30. ncbi 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
    Anna M Blom
    Lund University, Department of Laboratory Medicine, Malmo University Hospital, Malmo, Sweden
    J Immunol 180:6385-91. 2008
    ..Three of the patients carry also mutations in membrane cofactor protein and factor H strengthening the hypothesis that individuals may carry multiple susceptibility factors with an additive effect on the risk of developing aHUS...
  31. pmc Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations
    Henry G Hocking
    Edinburgh Biomolecular NMR Unit, Schools of Chemistry and Biological Sciences, Joseph Black Chemistry Bldg, University of Edinburgh, West Mains Road, Edinburgh, United Kingdom
    J Biol Chem 283:9475-87. 2008
    ....
  32. ncbi Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome
    David Kavanagh
    Institute of Human Genetics, University of Newcastle upon Tyne, Tyne and Wear NE1 3BZ, UK
    J Am Soc Nephrol 16:2150-5. 2005
    ..As with CFH- and MCP-associated HUS, there was incomplete penetrance in the family of one of the affected individuals. This study provides further evidence that atypical HUS is a disease of complement dysregulation...
  33. ncbi Update on evaluating complement in hemolytic uremic syndrome
    David Kavanagh
    Renal Division, Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Curr Opin Nephrol Hypertens 16:565-71. 2007
    ..The last few years have seen the decoding of the genetic basis for atypical hemolytic uremic syndrome...