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Case Report

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

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

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Makiko Tajika, Yusuke Takeuchi, Mai Arai, Koichiro Fujimaki, Takashi Soga, Kazunaga Agematsu, Atsushi Kawakami & Yoh Umeda. (2019) Remarkable effectiveness of tocilizumab in familial Mediterranean fever exon 3 variant with severe abdominal pain and PFAPA-like symptoms: a child case report and review of the literature. Modern Rheumatology Case Reports 3:2, pages 179-185.
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Articles from other publishers (8)

Felipe Blasco, Ángel García A, María Dolores Martos & Sandra Muñoz. (2021) Atypical familial Mediterranean fever with PFAPA-Like symptoms and psoriasis. Reumatología Clínica (English Edition) 17:8, pages 489-490.
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Felipe Blasco, Ángel García A, María Dolores Martos & Sandra Muñoz. (2021) Variante atípica PFAPA-like de la fiebre mediterránea familiar asociada a psoriasis. Reumatología Clínica 17:8, pages 489-490.
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Lori B. Tucker, Lovro Lamot, Iwona Niemietz, Brian K. Chung, David A. Cabral, Kristin Houghton, Ross E. Petty, Kimberly A. Morishita, Gillian I. Rice, Stuart E. Turvey, William T. Gibson & Kelly L. Brown. (2019) Complexity in unclassified auto-inflammatory disease: a case report illustrating the potential for disease arising from the allelic burden of multiple variants. Pediatric Rheumatology 17:1.
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Oskar Schnappauf & Ivona Aksentijevich. (2019) Current and future advances in genetic testing in systemic autoinflammatory diseases. Rheumatology 58:Supplement_6, pages vi44-vi55.
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Guilaine Boursier, Veronique Hentgen, Guillaume Sarrabay, Isabelle Koné-Paut & Isabelle Touitou. (2019) The Changing Concepts Regarding the Mediterranean Fever Gene: Toward a Spectrum of Pyrin-Associated Autoinflammatory Diseases with Variable Heredity. The Journal of Pediatrics 209, pages 12-16.e1.
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Yusuke Takeuchi, Tomonari Shigemura, Norimoto Kobayashi, Haruo Nagumo, Masahiro Furumoto, Kyo Ogasawara, Hitomi Fujii, Masahiro Takizawa, Takashi Soga, Hisanori Matoba, Junya Masumoto, Keitaro Fukushima, Kiyoshi Migita, Toshiyuki Ojima, Yoh Umeda & Kazunaga Agematsu. (2019) Clinical features and new diagnostic criteria for the syndrome of periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis. International Journal of Rheumatic Diseases.
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Amra Adrovic, Sezgin Sahin, Kenan Barut & Ozgur Kasapcopur. (2018) Familial Mediterranean fever and periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome: shared features and main differences. Rheumatology International 39:1, pages 29-36.
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Jean-Marie Berthelot. (2018) Associations rares ou trompeuses entre pathologies articulaires et pathologies ORL. Revue du Rhumatisme Monographies 85:4, pages 308-313.
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