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Inherited dysregulation of the complement system

Lookup NU author(s): Professor Tim Goodship


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In recent years there has been a substantial increase in the understanding of the genetics and pathogenesis of HUS. Mutations in factor H, a fluid-phase regulator of the alternative complement pathway, have been identified in 15-30% of patients with both familial and sporadic (D-) HUS. The mutations mainly cluster in the C terminal part of factor H, a region that is important for both binding to c3b and also polyanionic structures on cell surfaces. This leads to loss of protection against complement mediated endothelial injury. Mutations in the membrane bound complement regulator, membrane cofactor protein (MCP; CD46) have also been described in three families. These result in an impairment of inactivation of surface bound c3b. Finally mutations in the serine protease, factor I that lead to deficiency of the protein have been reported in two HUS patients. There is therefore now overwhelming evidence that dysregulation of the alternative complement pathway predisposes to the development of a thrombotic microangiopathy

Publication metadata

Author(s): Goodship THJ

Publication type: Article

Publication status: Published

Journal: Bulletin et Memoires de le Academie Royale de Medecine de Belgique

Year: 2004

Volume: 159

Issue: 2

Pages: 195-198

ISSN (print): 0377-8231

Publisher: Academie Royale de Medecine de Belgique

PubMed id: 15615093

Notes: TY - JOUR DA - 20041223 IS - 0377-8231 LA - eng PT - Journal Article SB - IM RP - NOT IN FILE