390
Views
10
CrossRef citations to date
0
Altmetric
Case Report

Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA

, , , , , , & show all
Pages 356-359 | Received 01 Aug 2014, Accepted 04 Sep 2014, Published online: 02 Mar 2017

References

  • Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879–85.
  • Ryan JG, Masters SL, Booty MG, Habal N, Alexander JD, Barham BK, et al. Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein. Ann Rheum Dis. 2010;69(7):1383–8.
  • Marshall GS, Edwards KM, Lawton AR. PFAPA syndrome. Pediatr Infect Dis J. 1989;8(9):658–9.
  • Feder HM. Jr. Periodic fever, aphthous stomatitis, pharyngitis, adenitis: a clinical review of a new syndrome. Curr Opin Pediatr. 2000;12(3):253–6.
  • Cochard M, Clet J, Le L, Pillet P, Onrubia X, Gueron T, et al. PFAPA syndrome is not a sporadic disease. Rheumatology (Oxford). 2010;49(10):1984–7.
  • Thomas KT, Feder HM, Jr., Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999;135(1):15–21.
  • Padeh S, Stoffman N, Berkun Y. Periodic fever accompanied byaphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) in adults. Israel Med Assoc J. 2008;10(5):358–60.
  • Lachmann HJ. Clinical immunology review series: an approach to the patient with a periodic fever syndrome. Clin Exp Immunol. 2011;165(3):301–9.
  • Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, et al. Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis Rheum. 2011;63(4):1141–50.
  • Migita K, Agematsu K, Yazaki M, Nonaka F, Nakamura A, Toma T, et al. Familial Mediterranean fever: genotype-phenotypecorrelations in Japanese patients. Medicine. 2014;93(3):158–64.
  • Migita K, Ida H, Moriuchi H, and Agematsu K. Clinical relevance of MEFV gene mutations in Japanese patients with unexplained fever. J Rheumatol. 2012;39(4):875–7.
  • Taniuchi S, Nishikomori R, Iharada A, Tuji S, Heike T, Kaneko K. MEFV variants in patients with PFAPA syndrome in Japan. Open Rheumatol J. 2013;7(4):22–5.
  • Renko M, Salo E, Putto-Laurila A, Saxen H, Mattila PS, Luotonen J, et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J Pediatr. 2007;151(3):289–92.

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.