Table 2.

Demographic, genetic, and laboratory characteristics at presentation

Patient	Sex	Age at diagnosis	Clinical presentation	Renal biopsy	C3 level (0.68–1.38) (g/l)	C4 level (0.18–0.6) (g/l)	DGKE mutation	Inheritance	Consanguinity	Affected siblingsa	Complement genetic analysis	Anti-FH Ab
NCL25	F	2 yr	aHUS	Yes	0.95b	0.15b	c.463A>G p.(Arg155Gly)c c.1427T>C p.(Leu476Pro)c	Comp Het	No	Yes	NMD	No
NCL26	F	1 yr 10 mo	aHUS	Yes	NA	NA	c.826delG p.(Val276Phefs∗8)c	Hom	Yes	Yes	NMD	No
NCL27d	M	9 mo	aHUS/NS	Yes	0.5	0.12	c.1597A>C p.(Thr533Pro)c	Hom	No	Yes	NMD	No
NCL28	F	NA	aHUS	ND	1.01	0.22	c.1A>T p.(Met1Leu)c	Hom	Yes	NA	NMD	No
NCL29d	M	12 mo	aHUS/NS	Yes	0.52	NA	c.1597A>C p.(Thr533Pro)c	Hom	No	Yes	NMD	No
NCL30	F	2 yr 2 mo	aHUS	ND	0.89	0.07	c.393C>G p.(Asn131Lys)c c.465-2A>Gc	Comp Het	No	No	NMD	No
NCL31	F	8 mo	aHUS/NS	ND	1.06	0.28	c.325A>G p.(Lys109Glu)	Hom	Yes	No	NMD	No
NCL32	F	3 mo	aHUS/NS	ND	0.94	0.18	c.236A>C p.(Gln79Pro)c	Hom	Yes	No	NMD	ND
NCL33	F	7 mo	aHUS	ND	1.64	0.65	c.966G>A p.(Trp322∗)	Hom	No	No	NMD	No
NCL34	M	8 yr	aHUS	Yes	1.15	0.34	c.1647_1650delAACA p.(Thr550Metfs∗13)c	Hom	Yes	No	NMD	No
NCL35	F	6 mo	aHUS/NS	ND	1.44	0.28	c.325A>G p.(Lys109Glu)	Hom	Yes	No	NMD	ND
NCL36	M	7 mo	aHUS	ND	0.55	0.18	c.966G>A p.(Trp322∗) c.1524+2T>C	Comp Het	No	No	NMD	ND
NCL37	F	2 yr 1 mo	NS	Yes	1.13	0.24	c.323G>A p.(Cys108Tyr)c	Hom	Yes	No	NMD	No
NCL38	M	1 yr 2 mo	aHUS	ND	0.9	0.16	c.966G>A p.(Trp322∗)	Hom	Yes	No	NMD	No
NCL39	F	1 yr 11 mo	aHUS	ND	1.44	0.44	c.966G>A p.(Trp322∗) c.465-2A>Gc	Comp Het	No	No	NMD	No
NCL40	F	3 mo	aHUS	ND	1.37	0.24	c.966G>A p.(Trp322∗)	Hom	No	No	NMD	No

aHUS, atypical hemolytic uremic syndrome; anti-FH Ab, anti–factor H autoantibody; Comp Het, compound heterozygote; DGKE, diacylglycerol kinase epsilon; F, female; Hom, homozygote; M, male; NA, not available; ND, not done; NMD, no mutation detected; NS, nephrotic syndrome.

Normal ranges for C3 and C4 are shown in parentheses.

^aSee Supplementary Figure S2 for pedigrees.

^bConvalescent sample.

^cNot previously reported.

^dSiblings.