Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

Table 1 Laboratory and serology characteristics of affected probands with monogenic childhood-onset lupus

Pt	Hb g/dl	WBC k/uL	ALC k/uL	PLT k/uL	Cr mg/dl (normal range)	Urine Protein/Cr Ratio (< 0.2 g/gr)	AST IU/I 0–60	ALT IU/I 7–45	ESR mm/hr	CRP mg/l 0–5	C3 mg/dl 90–180	C4 mg/d 10–40	IgG mg/d 720–1560	ANA	Anti-dsDNA IU/ml 0–4.99	Anti-smith U/ml 0–20
A1	5.31	1.17	0.73	42	1.03 (0.15–0.37)	6.9	1710	228	22	1.07	61.8	11.8	NA	POS	NEG	21.4
B2	11	3.05	0.59	217	0.64 (0.24–0.73)	2.05	87	60	35	140	49.2	5.95	1400	1:80	35	51.7
C3	9.83	6.06	1.24	141	0.72 (0.24–0.73)	0.49	186	64	NA	25.2	46.5	15.4	2910	1:640	11	< 0.3
D4	11.2	3.9	1.08	187	0.39 (0.45–0.75)	NA	101	66	95	17.2	135	18.4	2580	1:2560	5	1.1

Abbreviations: Hb hemoglobin, WBC white blood cell count, ALC absolute lymphocyte count, PLT platelets, Cr creatinine, AST aspartate aminotransferase, ALT alanine aminotransferase, ESR erythrocyte sedimentation rate, CRP c-reactive protein, ANA anti-nuclear antibody, NA not available

ISSN: 1546-0096