Volume 59, Issue 5, Pages 1677-1682 (May 2001) Autosomal-dominant periodic fever with AA amyloidosis: Novel mutation in tumor necrosis factor receptor 1 gene Rapid Communication  Michel Jadoul, Catherine Dodé, Jean-Pierre Cosyns, Daniel Abramowicz, Bernard Georges, Marc Delpech, Yves Pirson  Kidney International  Volume 59, Issue 5, Pages 1677-1682 (May 2001) DOI: 10.1046/j.1523-1755.2001.0590051677.x Copyright © 2001 International Society of Nephrology Terms and Conditions

Figure 1 Pedigree of a Belgian family with autosomal-dominant periodic fever with AA amyloidosis. Shaded symbols indicate AA amyloidosis. Abbreviations are: P, C55S mutation; N, no C55S mutation; NT, no genetic testing performed (patient I-1 died in 1985 and patient II-4 refused genetic testing). Kidney International 2001 59, 1677-1682DOI: (10.1046/j.1523-1755.2001.0590051677.x) Copyright © 2001 International Society of Nephrology Terms and Conditions

Figure 2 Congo Red-positive amyloid, with apple-green birefringence under polarized light, in mesangium and interlobular artery (A; ×200). Strong staining of amyloid deposits with anti-SAA antibody labeled with a peroxidase is shown (B; ×400). Kidney International 2001 59, 1677-1682DOI: (10.1046/j.1523-1755.2001.0590051677.x) Copyright © 2001 International Society of Nephrology Terms and Conditions

Figure 3 Detection of the TNFRSF1A mutation. Sequence analysis of exon 3 in patient II-1 (A) compared with a control (B). The arrow points to the G→C heterozygous mutation, which results in a cysteine-to-serine substitution. Kidney International 2001 59, 1677-1682DOI: (10.1046/j.1523-1755.2001.0590051677.x) Copyright © 2001 International Society of Nephrology Terms and Conditions