Læknaneminn - 01.04.2022, Side 35

Læknaneminn - 01.04.2022, Side 35
33 Hiti sem er ekki af völdum sýkinga 2016 Jan;12(1):14–24. 5. Rowczenio D, Shinar Y, Ceccherini I, Sheils K, Van Gijn M, Patton SJ, et al. Current practices for the genetic diagnosis of autoinflammatory diseases: results of a European Molecular Genetics Quality Network Survey. Eur J Hum Genet EJHG. 2019 Oct;27(10):1502–8. 6. de Torre­Minguela C, Mesa Del Castillo P, Pelegrín P. The NLRP3 and Pyrin Inflammasomes: Implications in the Pathophysiology of Autoinflammatory Diseases. Front Immunol. 2017;8:43. 7. Wekell P, Karlsson A, Berg S, Fasth A. Review of autoinflammatory diseases, with a special focus on periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome. Acta Paediatr Oslo Nor 1992. 2016 Oct;105(10):1140–51. 8. Goldsmith DP. Periodic fever syndromes. Pediatr Rev. 2009 May;30(5):e34­41. 9. Sarı İ, Birlik M, Kasifoğlu T. Familial Mediterranean fever: An updated review. Eur J Rheumatol. 2014 Mar;1(1):21–33. 10. Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Tumor necrosis factor receptor­associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol. 2000 Dec;136(12):1487–94. 11. Yu JR, Leslie KS. Cryopyrin­associated periodic syndrome: an update on diagnosis and treatment response. Curr Allergy Asthma Rep. 2011 Feb;11(1):12–20. 12. Favier LA, Schulert GS. Mevalonate kinase deficiency: current perspectives. Appl Clin Genet. 2016;9:101–10. 13. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987 Jan;110(1):43–6. 14. Theodoropoulou K, Vanoni F, Hofer M. Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome: a Review of the Pathogenesis. Curr Rheumatol Rep. 2016 Apr;18(4):18. 15. Førsvoll J, Kristoffersen EK, Øymar K. Incidence, clinical characteristics and outcome in Norwegian children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome; a population­based study. Acta Paediatr Oslo Nor 1992. 2013 Feb;102(2):187–92. 16. Feder HM, Salazar JC. A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr Oslo Nor 1992. 2010 Feb;99(2):178–84. 17. Sicignano LL, Rigante D, Moccaldi B, Massaro MG, Delli Noci S, Patisso I, et al. Children and Adults with PFAPA Syndrome: Similarities and Divergences in a Real­Life Clinical Setting. Adv Ther. 2021 Feb;38(2):1078–93. 18. Thomas KT, Feder HM, Lawton AR, Edwards KM. Periodic fever syndrome in children. J Pediatr. 1999 Jul;135(1):15–21. 19. Hofer M, Pillet P, Cochard MM, Berg S, Krol P, Kone­Paut I, et al. International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatol Oxf Engl. 2014 Jun;53(6):1125–9. 20. Asna Ashari K, Rezaei N. PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and adenitis) syndrome: an overview of genetic background. Clin Rheumatol. 2021 Nov;40(11):4437–44. 21. Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL­1 blockade. Proc Natl Acad Sci U S A. 2011 Apr 26;108(17):7148– 53. 22. Batu ED. Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: main features and an algorithm for clinical practice. Rheumatol Int. 2019 Jun;39(6):957–70. 23. Dale DC, Hammond WP. Cyclic neutropenia: a clinical review. Blood Rev. 1988 Sep;2(3):178–85. 24. Takeuchi Y, Shigemura T, Kobayashi N, Nagumo H, Furumoto M, Ogasawara K, et al. Clinical features and new diagnostic criteria for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. Int J Rheum Dis. 2019 Aug;22(8):1489–97. 25. Yazgan H, Gültekin E, Yazıcılar O, Sagun ÖF, Uzun L. Comparison of conventional and low dose steroid in the treatment of PFAPA syndrome: preliminary study. Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1588–90. 26. Peridis S, Pilgrim G, Koudoumnakis E, Athanasopoulos I, Houlakis M, Parpounas K. PFAPA syndrome in children: A meta­analysis on surgical versus medical treatment. Int J Pediatr Otorhinolaryngol. 2010 Nov;74(11):1203– 8. 27. Vanoni F, Theodoropoulou K, Hofer M. PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol Online J. 2016 Jun 27;14(1):38. 28. Tasher D, Stein M, Dalal I, Somekh E. Colchicine prophylaxis for frequent periodic fever, aphthous stomatitis, pharyngitis and adenitis episodes. Acta Paediatr Oslo Nor 1992. 2008 Aug;97(8):1090–2. 29. Førsvoll J, Øymar K. The role of tonsillectomy in the Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis syndrome; a literature review. 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