Table 1 Identified complement mutations... | American Society of Hematology

Table 1

Identified complement mutations and autoantibodies in the aHUS cohort

	Nucleotide	Protein	Patient ID	Complement function assays
	Nucleotide	Protein	Patient ID	APFA	Hemolytic
Gene mutation
Factor H	c.2745C>A	p.Cys915X	MA-1	13%	5+
	c.1825G>A	p.Val609Ile	MA-4	59%	Normal^a
	c.3583 G>T	p.Glu1195X	MA-7	48%	Normal^a
	c.1873G>T	p.Glu625X	MA-11	63%	Normal^a
	c.3210delT	p.Glu1071fsX1089	MA-16	70%	2+
	c.3572C>T	p.Ser1191Leu	MA-20	63%	2+
Factor I	c.356G>A	p.Gly119Arg	MA-25	10%	2+
	c.859G>A	p.Gly287Arg	MA-25	10%	2+
Factor B	c.1697A>C	p.Glu566Ala	MA-23	1%	Normal^a
	c.856T>C	p.Phe286Leu	MA-27	54%	Normal^a
C3	c.188C>T	p.Pro63Leu	MA-6	24%	Normal^a
	c.4855A>C	p.Ser1619Arg	MA-7	48%	Normal^a
Thrombomodulin	c.1456G>T	p.Asp486Tyr	MA-15	48%	Normal^a
	c.1501C>T	p.Pro501Thr	MA-25	10%	2+
	c.1456G>T	p.Asp486Tyr	MA-28	25%	Normal^a
Factor H autoantibodies
1:600 titer			MA-9	90%	5+
1:100 titer			MA-23	1%	Normal^a
Fusion protein
CFHR1/CFH^b			MA-8	0.3%	Normal^a

	Nucleotide	Protein	Patient ID	Complement function assays
	Nucleotide	Protein	Patient ID	APFA	Hemolytic
Gene mutation
Factor H	c.2745C>A	p.Cys915X	MA-1	13%	5+
	c.1825G>A	p.Val609Ile	MA-4	59%	Normal^a
	c.3583 G>T	p.Glu1195X	MA-7	48%	Normal^a
	c.1873G>T	p.Glu625X	MA-11	63%	Normal^a
	c.3210delT	p.Glu1071fsX1089	MA-16	70%	2+
	c.3572C>T	p.Ser1191Leu	MA-20	63%	2+
Factor I	c.356G>A	p.Gly119Arg	MA-25	10%	2+
	c.859G>A	p.Gly287Arg	MA-25	10%	2+
Factor B	c.1697A>C	p.Glu566Ala	MA-23	1%	Normal^a
	c.856T>C	p.Phe286Leu	MA-27	54%	Normal^a
C3	c.188C>T	p.Pro63Leu	MA-6	24%	Normal^a
	c.4855A>C	p.Ser1619Arg	MA-7	48%	Normal^a
Thrombomodulin	c.1456G>T	p.Asp486Tyr	MA-15	48%	Normal^a
	c.1501C>T	p.Pro501Thr	MA-25	10%	2+
	c.1456G>T	p.Asp486Tyr	MA-28	25%	Normal^a
Factor H autoantibodies
1:600 titer			MA-9	90%	5+
1:100 titer			MA-23	1%	Normal^a
Fusion protein
CFHR1/CFH^b			MA-8	0.3%	Normal^a

Boldface type denotes an abnormal complement functional assay.

ID, identification.

Normal hemolytic assays in combination with an abnormal APFA likely represent a false-positive result secondary to depletion of complement components.

A hybrid gene with resulting fusion protein containing SCRs 1–3 of CFHR1 and SCRs 19–20 of FH.

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