Does complement factor B have a role in the pathogenesis of atypical HUS?
| Autor: | David J. Kavanagh, Anna Richards, Elizabeth Mayland, Rachel M. Burgess, Timothy H.J. Goodship, Judith Goodship, Elizabeth J. Kemp |
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| Rok vydání: | 2005 |
| Předmět: |
business.industry
Immunology Haplotype Potential candidate urologic and male genital diseases Complement factor B Pathogenesis Gene Frequency hemic and lymphatic diseases Case-Control Studies Hemolytic-Uremic Syndrome Mutation Alternative complement pathway Medicine Humans Allele Haemolytic-uraemic syndrome business Molecular Biology Gene Complement Factor B |
| Zdroj: | Molecular immunology. 43(7) |
| ISSN: | 0161-5890 |
| Popis: | Atypical haemolytic uraemic syndrome (aHUS) is a disorder of complement dysregulation. Because complement factor B (fB) carries the catalytic site of the alternative pathway convertase we examined it as both a potential candidate gene and modifier in the pathogenesis of aHUS. No factor B gene (BF) mutations were found in 20 patients with aHUS. There was no statistical difference between controls and aHUS patients in either BF allele or haplotype frequency. In conclusion, in this small series of aHUS patients we found no evidence that fB has a major role in the pathogenesis of aHUS. |
| Databáze: | OpenAIRE |
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