Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 20, 2013 - Issue 2
159
Views
6
CrossRef citations to date
0
Altmetric
Case Reports

Systemic AA amyloidosis as a unique manifestation of a combined mutation of TNFRSF1A and MEFV genes

, , , , , , & show all
Pages 122-126 | Received 18 Jul 2012, Accepted 06 Feb 2013, Published online: 06 Mar 2013

References

  • Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, Yalcinkaya F, et al. Country as the primary risk factor for renal amyloidosis in Familial Mediterranean Fever. Arthritis Rheum 2007;56:1706–12
  • Dode C, Hazenberg B, Pecheux C, Cattan D, Moulin B, Barthelemy A, Gubler MC, et al. Mutational spectrum in the MEFV and TNFRSF1A genes in patients suffering from AA amyloidosis and recurrent inflammatory attacks. Nephrol Dial Transplant 2002;17:1212–17
  • Aksentijevich I, Galon J, Soares M, Mansfield E, Hull K, Oh HH, Goldbach-Mansky R, et al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet 2001;69:301–14
  • Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM, Dean J, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 2002;81:349–68
  • Masson C, Simon V, Hoppe E, Insalaco P, Cisse I, Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases. Joint Bone Spine 2004;71:284–90
  • Ravet N, Rouaghe S, Dode C, Bienvenu J, Stirnemann J, Levy P, Delpech M, Grateau G. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis 2006;65:1158–62
  • Aganna E, Hawkins PN, Ozen S, Pettersson T, Bybee A, McKee SA, Lachmann HJ, et al. Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun 2004;5:289–93
  • Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001;9:473–83
  • Cigni A, Ledda F, Satta AE. A complex case of renal amyloidosis with a rare co-occurrence of 2 mutations in separate hereditary periodic fever syndrome-related genes. J Nephrol 2006;19:543–9
  • Granel B, Serratrice J, Dode C, Grateau G, Disdier P, Weiller PJ. Overlap syndrome between FMF and TRAPS in a patient carrying MEFV and TNFRSF1A mutations. Clin Exp Rheumatol 2007;25:93–5
  • Cantarini L, Baldari CT, Rossi Paccani S, Lucherini OM, Laghi Pasini F, Galeazzi M. Saturday night fever: bizarre recurrence of fever attacks in a patient carrying a mutation in both the MEFV and TNFRSF1A genes. Clin Exp Rheumatol 2008;26:128–9
  • Stojanov S, Lohse P, Lohse P, Hoffmann F, Renner ED, Zellerer S, Kery A, et al. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa. Arthritis Rheum 2004;50:1951–8
  • Hoffmann F, Lohse P, Stojanov S, Shin YS, Renner ED, Kery A, Zellerer S, Belohradsky BH. Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation. Eur J Hum Genet 2005;13:510–12
  • Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, Hammond LJ, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol 2002;130:484–8
  • Singh-Grewal D, Chaitow J, Aksentijevich I, Christodoulou J. Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness. Ann Rheum Dis 2007;66:1541
  • Marek-Yagel D, Berkun Y, Padeh S, Lidar M, Shinar Y, Bar-Joseph I, Reznik-Wolf H, et al. Role of the R92Q TNFRSF1A mutation in patients with Familial Mediterranean Fever. Arthritis Care Res 2010;62:1294–8
  • Kovacevic A, Hammer A, Sundl M, Pfister B, Hrzenjak A, Ray A, Ray BK,, et al. Expression of serum amyloid A transcripts in human trophoblast and fetal-derived trophoblast-like choriocarcinoma cells. FEBS Lett 2006;580:161–7

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.