Table 2 Summary of patients with A304V... | American Society of Hematology

Table 2

Summary of patients with A304V MCP mutations

Patient	Disease	Sex	Age of onset, y	Relapses, no.	Renal sequelae	Inheritance	Complement protein tested*	Other mutations	Source
5	aHUS	F	6	4	proteinuria	Het	FH, FI, CR1	None	Caprioli et al¹⁰
6	aHUS	M	0.9	Multiple	CRF	Het	C3, C4, CH50, FH, FI	None	C. Belsha, written communication, February 2007
7	aHUS/TTP	M	63	2	None	NA	C3, C4, FH, FI	P553S CFI	T.H.J.G., March 2007
8	Stx-HUS	F	4	NA	NA	Het	FH, FI, CR1	None	C.J.F., J.P.A., April 2007 M.N., October 2006
9	HELLP	F	30	NA	CRF	NA	C3, C4, FB, FH, FI, MCP	None	V.F.B., December 2006
10	GN with C3 deposits	M	22	NA	proteinuria, hematuria	Het	C3, C4, FB, FH, FI, MCP	Het V181M MCP†	Servais et al²³

Patient	Disease	Sex	Age of onset, y	Relapses, no.	Renal sequelae	Inheritance	Complement protein tested*	Other mutations	Source
5	aHUS	F	6	4	proteinuria	Het	FH, FI, CR1	None	Caprioli et al¹⁰
6	aHUS	M	0.9	Multiple	CRF	Het	C3, C4, CH50, FH, FI	None	C. Belsha, written communication, February 2007
7	aHUS/TTP	M	63	2	None	NA	C3, C4, FH, FI	P553S CFI	T.H.J.G., March 2007
8	Stx-HUS	F	4	NA	NA	Het	FH, FI, CR1	None	C.J.F., J.P.A., April 2007 M.N., October 2006
9	HELLP	F	30	NA	CRF	NA	C3, C4, FB, FH, FI, MCP	None	V.F.B., December 2006
10	GN with C3 deposits	M	22	NA	proteinuria, hematuria	Het	C3, C4, FB, FH, FI, MCP	Het V181M MCP†	Servais et al²³

NA indicates not available; Het, heterozygous; GN, glomerulonephritis; and CRF, chronic renal failure.

Components listed were measured and were normal; MCP and CR1 were measured by FACS.

V181M MCP mutant is normally expressed and has no abnormalities in C3b and C4b binding and cofactor activity (unpublished data).