Otoinflamatuvar Hastalıklara Giriş ve Ailesel Akdeniz Ateşi Dışı Otoinflamatuvar Hastalıklar
Özet
Referanslar
Barron K, Kastner DL. Periodic fever syndromes and other inherited autoinflammatory diseases. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn LR, Mellins ED, Fuhlbrigge RC (eds). Textbook of Pediatric Rheumatology.Eighth edition, Elsevier, Philadelphia, 2021: 525-543.
Ben-Chetrit E. https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis?search
Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol, 2020;146(5): 925-937.
McGonagle D, McDermott MF, A proposed classification of the immunological diseases. PLoS Med, 2006; 3(8): e297.
Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis, 2011; 70(3): 495-499.
McDermott MF, AksentijevichI, Galon J, McDermott EM, Ogunkolade BW, Centole M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell, 1999; 97(1):133-144.
Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis, 2014; 73(12): 2160-2167.
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, et al. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry. J Allergy Clin Immunol Pract, 2021; 9(2): 783-791.
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med, 2018; 378(20): 1908-1919.
van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore), 2008; 87(6): 301-310.
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis, 2017; 76(6): 942-947.
Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, et al. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review. Rheumatology (Oxford). 2022; 61(12): 4827-4834.
Walker UA, Tilson HH, Hawkins PN, Poll TV, Noviello S, Levy J, et al. Long-term safety and effectiveness of canakinumab therapy in patients with cryopyrin-associated periodic syndrome: results from theβ-Confident Registry. RMD Open, 2021; 7(2): e001663.
Referanslar
Barron K, Kastner DL. Periodic fever syndromes and other inherited autoinflammatory diseases. In: Petty RE, Laxer RM, Lindsley CB, Wedderburn LR, Mellins ED, Fuhlbrigge RC (eds). Textbook of Pediatric Rheumatology.Eighth edition, Elsevier, Philadelphia, 2021: 525-543.
Ben-Chetrit E. https://www.uptodate.com/contents/familial-mediterranean-fever-epidemiology-genetics-and-pathogenesis?search
Nigrovic PA, Lee PY, Hoffman HM. Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. J Allergy Clin Immunol, 2020;146(5): 925-937.
McGonagle D, McDermott MF, A proposed classification of the immunological diseases. PLoS Med, 2006; 3(8): e297.
Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J, et al. Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis, 2011; 70(3): 495-499.
McDermott MF, AksentijevichI, Galon J, McDermott EM, Ogunkolade BW, Centole M, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell, 1999; 97(1):133-144.
Lachmann HJ, Papa R, Gerhold K, Obici L, Touitou I, Cantarini L, et al. The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis, 2014; 73(12): 2160-2167.
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, et al. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry. J Allergy Clin Immunol Pract, 2021; 9(2): 783-791.
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, et al. Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes. N Engl J Med, 2018; 378(20): 1908-1919.
van der Hilst JC, Bodar EJ, Barron KS, Frenkel J, Drenth JP, van der Meer JW, et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore), 2008; 87(6): 301-310.
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis, 2017; 76(6): 942-947.
Rodrigues F, Cuisset L, Cador-Rousseau B, Giurgea I, Neven B, Buob D, et al. AA amyloidosis complicating cryopyrin-associated periodic syndrome: a study of 86 cases including 23 French patients and systematic review. Rheumatology (Oxford). 2022; 61(12): 4827-4834.
Walker UA, Tilson HH, Hawkins PN, Poll TV, Noviello S, Levy J, et al. Long-term safety and effectiveness of canakinumab therapy in patients with cryopyrin-associated periodic syndrome: results from theβ-Confident Registry. RMD Open, 2021; 7(2): e001663.
