Phenotype #0000348079

Individual ID	00460347
Associated disease	SLE
Phenotype details	see paper; ..., kidney disease; interstitial lung disease, pleuritis, pericarditis, hepatosplenomegaly, ascites, recurrent fever; seroid-resistant nephrotic syndrome; serology positive antinuclear antibody (1:160), low C3 (76 mg/dL) and C4 (9 mg/dL); membranous nephropathy with focal endo- and extracapillary proliferative lesions; IF mesangial and subepithelial IgG +++, IgA++, IgM++, C3+, and C1q+; EM thickening of glomerular basement membrane, podocyte foot process effacement, subepithelial and mesangial electron-dense deposits; 17y-kidney transplant; graft survival 2y (graft loss due to acute rejection)
Diagnosis/Initial	systemic lupus erythematosus
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	SLEB16
Age/Examination	19y (19 years)
Age/Diagnosis	-
Age/Onset	5y
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