Phenotype #0000348080

Individual ID	00460348
Associated disease	SLE
Phenotype details	see paper; ..., kidney disease, alopecia, interstitial lung disease, hepatosplenomegaly, ascites, urticarial macular rash, necrotic skin lesions, polyarthritis, lymphadenopathy, recurrent fever; acute kidney injury, nephrotic-range proteinuria, microhematuria, hypertension; serology positive antinuclear antibody (1:320), anti-CL and MPO-ANCA (>200 ELISA units/mL), low C3 (40 mg/dL) and C4 (8 mg/dL); IF 1st biopsy necrotizing crescentic glomerulonephritis; IF 2nd biopsy diffuse necrotizing crescentic glomerulonephritis with endo- and extracapillary proliferation; 16y-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	19y (19 years)
Age/Diagnosis	-
Age/Onset	7y
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