Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene

doi:10.1371/journal.pmed.0030432

Comment

. 2006 Oct;3(10):e432.

doi: 10.1371/journal.pmed.0030432.

Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene

Marina Noris¹, Giuseppe Remuzzi

Affiliations

Affiliation

¹ Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Transplant Research Center, Ranica, Bergamo, Italy.

PMID: 17076562
PMCID: PMC1626557
DOI: 10.1371/journal.pmed.0030432

Comment

Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene

Marina Noris et al. PLoS Med. 2006 Oct.

. 2006 Oct;3(10):e432.

doi: 10.1371/journal.pmed.0030432.

Authors

Marina Noris¹, Giuseppe Remuzzi

Affiliation

¹ Mario Negri Institute for Pharmacological Research, Clinical Research Center for Rare Diseases Aldo e Cele Daccò, Transplant Research Center, Ranica, Bergamo, Italy.

PMID: 17076562
PMCID: PMC1626557
DOI: 10.1371/journal.pmed.0030432

Abstract

Noris and Remuzzi discuss a new study showing an association between atypical haemolytic uremic syndrome and a hybrid complement gene,CFH/CFHL1.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Comment on

Atypical haemolytic uraemic syndrome associated with a hybrid complement gene.
Venables JP, Strain L, Routledge D, Bourn D, Powell HM, Warwicker P, Diaz-Torres ML, Sampson A, Mead P, Webb M, Pirson Y, Jackson MS, Hughes A, Wood KM, Goodship JA, Goodship TH. Venables JP, et al. PLoS Med. 2006 Oct;3(10):e431. doi: 10.1371/journal.pmed.0030431. PLoS Med. 2006. PMID: 17076561 Free PMC article.

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References

1. Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:1035–1050. - PubMed
1. Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, et al. Genetics of HUS: The impact of MCP, CFH and IF mutations on clinical presentation, response to treatment and outcome. Blood. 2006;108:1267–1279. - PMC - PubMed
1. Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, et al. Factor H mutations in haemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition. Am J Hum Genet. 2001;68:485–490. - PMC - PubMed
1. Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical haemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–2025. - PubMed
1. Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S. The factor H protein family. Immunopharmacology. 1999;42:53–60. - PubMed

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[1] Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:1035–1050. - PubMed

[2] Noris M, Remuzzi G. Hemolytic uremic syndrome. J Am Soc Nephrol. 2005;16:1035–1050. - PubMed

[3] Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, et al. Genetics of HUS: The impact of MCP, CFH and IF mutations on clinical presentation, response to treatment and outcome. Blood. 2006;108:1267–1279. - PMC - PubMed

[4] Caprioli J, Noris M, Brioschi S, Pianetti G, Castelletti F, et al. Genetics of HUS: The impact of MCP, CFH and IF mutations on clinical presentation, response to treatment and outcome. Blood. 2006;108:1267–1279. - PMC - PubMed

[5] Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, et al. Factor H mutations in haemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition. Am J Hum Genet. 2001;68:485–490. - PMC - PubMed

[6] Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, et al. Factor H mutations in haemolytic uremic syndrome cluster in exons 18–20, a domain important for host cell recognition. Am J Hum Genet. 2001;68:485–490. - PMC - PubMed

[7] Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical haemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–2025. - PubMed

[8] Fremeaux-Bacchi V, Moulton EA, Kavanagh D, Dragon-Durey MA, Blouin J, et al. Genetic and functional analyses of membrane cofactor protein (CD46) mutations in atypical haemolytic uremic syndrome. J Am Soc Nephrol. 2006;17:2017–2025. - PubMed

[9] Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S. The factor H protein family. Immunopharmacology. 1999;42:53–60. - PubMed

[10] Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S. The factor H protein family. Immunopharmacology. 1999;42:53–60. - PubMed

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Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene

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Complement factor h gene abnormalities in haemolytic uraemic syndrome: from point mutations to hybrid gene

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