All individuals with variants in gene DNASE1L3

20 entries on 1 page. Showing entries 1 - 20.
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00460330 Fam1PatA1 PubMed: Al-Mayouf 2011 4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 3 Johan den Dunnen
00460331 Fam1PatB3 PubMed: Al-Mayouf 2011 sister F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 1 Johan den Dunnen
00460332 Fam1PatC2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 1 Johan den Dunnen
00460333 Fam2PatA PubMed: Al-Mayouf 2011 4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin 1 4 Johan den Dunnen
00460334 Fam2PatB PubMed: Al-Mayouf 2011 relative M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin 1 1 Johan den Dunnen
00460335 Fam2PatC PubMed: Al-Mayouf 2011 relative F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin 1 1 Johan den Dunnen
00460336 Fam2PatD PubMed: Al-Mayouf 2011 relative M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4, anti-cardiolipin 1 1 Johan den Dunnen
00460337 Fam3PatA1 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 2 Johan den Dunnen
00460338 Fam3PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 1 Johan den Dunnen
00460339 Fam4PatA2 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2F), unaffected heterozygous carrier parents/relatives F yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 2 Johan den Dunnen
00460340 Fam4PatB1 PubMed: Al-Mayouf 2011 sister F yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, anti-neutrophil cytoplasmic antibody, low c3 and c4 1 1 Johan den Dunnen
00460341 Fam5PatA6 PubMed: Al-Mayouf 2011 4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and c4 1 4 Johan den Dunnen
00460342 Fam5PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, low c3 and c4 1 1 Johan den Dunnen
00460343 Fam5PatC1 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 1 1 Johan den Dunnen
00460344 Fam5PatD4 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4, anti-cardiolipin 1 1 Johan den Dunnen
00460345 Fam6PatA1 PubMed: Al-Mayouf 2011 4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 1 2 Johan den Dunnen
00460346 Fam6PatB2 PubMed: Al-Mayouf 2011 brother M yes - Arab - - - - SLE no nephritis; serology anti-nuclear antibody, anti-dsDNA, low C3 and C4 1 1 Johan den Dunnen
00460347 Pat1 PubMed: Volpi 2024 - M - Italy white - - - - SLE 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) 1 1 Johan den Dunnen
00460348 Pat2 PubMed: Volpi 2024 - M - Italy white - - - - SLE 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) 1 1 Johan den Dunnen
00460349 Pat3 PubMed: Volpi 2024 - F - Italy white - - - - SLE 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) 2 1 Johan den Dunnen
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