Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome

Kidney International

Volumn 81, Issue 1, 2012, Pages 11-13

  Kavanagh, David ^a   Anderson, Holly E ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT COMPONENT C3B; COMPLEMENT FACTOR H; ECULIZUMAB;

AMINO TERMINAL SEQUENCE; CARBOXY TERMINAL SEQUENCE; CELL PROTECTION; CLINICAL DECISION MAKING; COMPLEMENT ALTERNATIVE PATHWAY; CRYSTAL STRUCTURE; DISEASE ASSOCIATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEMOLYTIC UREMIC SYNDROME; HUMAN; IMMUNOSUPPRESSIVE TREATMENT; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRACTICE GUIDELINE; PREDICTIVE VALUE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN INTERACTION; RECURRENT DISEASE; REVIEW;

EID: 83655198117     PISSN: 00852538     EISSN: 15231755     Source Type: Journal    
DOI: 10.1038/ki.2011.330     Document Type: Note

References (10)

1. Kavanagh D, Goodship T. Genetics and complement in atypical HUS. Pediatr Nephrol 2010; 25: 2431-2442.
2. Caprioli J, Noris M, Brioschi S et al. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome. B lood 2006; 108: 1267-1279. (Pubitemid 44232024)
3. Kavanagh D, Richards A, Goodship T, Jalanko H. Transplantation in atypical hemolytic uremic syndrome. S emin Thromb Hemost 2010; 36: 653-659.
4. Ferreira VP, Herbert AP, Cortes C et al. The binding of factor H to a complex of physiological polyanions and C3b on cells is impaired in atypical hemolytic uremic syndrome. J Immunol 2009; 182: 7009-7018.
5. Sánchez-Corral P, González-Rubio C, Rodríguez de C órdoba S, L ópez-Trascasa M. Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H. Mol Immunol 2004; 41: 81-84. (Pubitemid 38609399)
6. Pechtl IC, Kavanagh D, McIntosh N et al. Disease-associated N-terminal complement factor H mutations perturb cofactor and decayaccelerating activities. J Biol Chem 2011; 286: 11082-11090.
7. Tortajada A, Pinto S, Mart í nez-Ara J et al. Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance. Kidney Int 2012; 81: 56-63.
8. Schmidt CQ, Herbert AP, Kavanagh D et al. A new map of glycosaminoglycan and C3b binding sites on factor H. J Immunol 2008; 181: 2610-2619.
9. Morgan HP, Schmidt CQ, Guariento M et al. Structural basis for engagement by complement factor H of C3b on a self surface. Nat Struct Mol Biol 2011; 18: 463-470.
10. Wu J, Wu YQ, Ricklin D et al. Structure of complement fragment C3b-factor H and implications for host protection by complement regulators. N at Immunol 2009; 10: 728-733.