Table 1 Pathogenesis of... | American Society of Hematology

Table 1

Pathogenesis of complement-mediated diseases

Disease	Mutation	Consequence	Complement pathway	Clinical manifestations
PNH	PIGA	Loss of CD55 and CD59 from hematopoietic cells	APC and TPC	Hemolysis thrombosis
aHUS	C3, B	Activates APC	APC	Hemolysis, thrombocytopenia, thrombosis and renal failure
	H, I, MCP, TM	Activates APC
	DGK	Unclear
Congenital CD59 deficiency	CD59	Loss of CD59 from all cells	TPC	Hemolysis and peripheral neuropathy
CAD	Unknown	Agglutination of red cells	CPC	Hemolysis, acrocyanosis
TTP	ADAMTS13 (autoantibodies are more common)	Accumulation of high–molecular–weight von Willebrand multimers	APC	Hemolysis, thrombocytopenia, thrombosis
Typical HUS	None	Shiga-toxin mediated effects	APC	Hemolysis, thrombocytopenia, renal failure

Disease	Mutation	Consequence	Complement pathway	Clinical manifestations
PNH	PIGA	Loss of CD55 and CD59 from hematopoietic cells	APC and TPC	Hemolysis thrombosis
aHUS	C3, B	Activates APC	APC	Hemolysis, thrombocytopenia, thrombosis and renal failure
	H, I, MCP, TM	Activates APC
	DGK	Unclear
Congenital CD59 deficiency	CD59	Loss of CD59 from all cells	TPC	Hemolysis and peripheral neuropathy
CAD	Unknown	Agglutination of red cells	CPC	Hemolysis, acrocyanosis
TTP	ADAMTS13 (autoantibodies are more common)	Accumulation of high–molecular–weight von Willebrand multimers	APC	Hemolysis, thrombocytopenia, thrombosis
Typical HUS	None	Shiga-toxin mediated effects	APC	Hemolysis, thrombocytopenia, renal failure

TPC indicates terminal pathway of complement; CPC, classical pathway of complement.