Phenotype #0000348081

Individual ID	00460349
Associated disease	SLE
Phenotype details	see paper; ..., kidney disease, malar rash, urticarial macular rash, polyarthritis, recurrent fever; subnephrotic proteinuria, microhematuria; serology positive antinuclear antibody (1:640), anti-dsDNA, low C3 (53 mg/dL) and C4 (4 mg/dL); thrombotic microangiopathy and immune-complex glomerulonephritis with mesangial and extracapillary proliferation; IF mesangial, subepithelial and subendothelial IgG++, IgA+, IgM+, C3++, and C4+; 13y-kidney transplant; graft survival 3y (functioning graft at last follow-up)
Diagnosis/Initial	systemic lupus erythematosus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SLEB16
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	4y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2025-01-23 18:15:23 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD