title: Does complement factor B have a role in the pathogenesis of atypical HUS?
abstract: 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.
authors.affiliation: Washington University School of Medicine, Campus Box 8045, St. Louis, MO 63110, USA. david.kavanagh@ncl.ac.uk
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
authors.forename: Elizabeth J
authors.initials: EJ
authors.lastname: Kemp
authors.forename: Anna
authors.initials: A
authors.lastname: Richards
authors.forename: Rachel M
authors.initials: RM
authors.lastname: Burgess
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Mayland
authors.forename: Judith A
authors.initials: JA
authors.lastname: Goodship
authors.forename: Timothy H J
authors.initials: TH
authors.lastname: Goodship
mesh_terms: D016022:Case-Control Studies; D011415:Complement Factor B / Q000235:genetics*; D005787:Gene Frequency; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D011415:Complement Factor B