Global Variome shared LOVD

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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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-01-23 18:15:23 +01:00 (CET) Date last edited N/A

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