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  • Title: A novel mutation in the complement factor B gene (CFB) and atypical hemolytic uremic syndrome.
    Author: Tawadrous H, Maga T, Sharma J, Kupferman J, Smith RJ, Schoeneman M.
    Journal: Pediatr Nephrol; 2010 May; 25(5):947-51. PubMed ID: 20108004.
    Abstract:
    We report the case of an 8-year-old girl diagnosed with atypical hemolytic uremic syndrome (aHUS) with a complement factor B (CFB) gene mutation. aHUS is a disease of complement dysregulation. In approximately 50% of patients, mutations are identified in genes encoding regulators of complement-complement factor H (CFH), membrane cofactor protein or complement factor I (CFI)-or activators of complement-complement factor B (CFB) or C3. The mutation in this patient was identified in exon 12 of CFB and changes a lysine at amino acid position 533 to an arginine (c.1598A>G p.Lys533Arg). The two other mutations previously reported in CFB associated with aHUS are c.858C>G, p.F286L in exon 6 and c.967A>Gp.K323E in exon 7.
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