Identification of a new CD46 gene mutation site in a family with atypical hemolytic uremic syndrome.

Abstract excerpt

BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy resulting from the dysregulation of the alternative complement pathway. Pathogenic variants in complement regulators (e.g., CFH, CFI, CD46, THBD), effectors (C3, CFB), CFHR genes, and non-complement genes (e.g., DGKE, INF2), as well as anti-factor H autoantibodies, play significant roles in disease pathogenesis. Furthermore,...

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