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Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.
Volker-Touw CM, de Koning HD, Giltay JC, de Kovel CG, van Kempen TS, Oberndorff KM, Boes ML, van Steensel MA, van Well GT, Blokx WA, Schalkwijk J, Simon A, Frenkel J, van Gijn ME. Volker-Touw CM, et al. Among authors: frenkel j. Br J Dermatol. 2017 Jan;176(1):244-248. doi: 10.1111/bjd.14757. Epub 2016 Dec 8. Br J Dermatol. 2017. PMID: 27203668 No abstract available.
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Among authors: frenkel j. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.
Ter Haar NM, Eijkelboom C, Cantarini L, Papa R, Brogan PA, Kone-Paut I, Modesto C, Hofer M, Iagaru N, Fingerhutová S, Insalaco A, Licciardi F, Uziel Y, Jelusic M, Nikishina I, Nielsen S, Papadopoulou-Alataki E, Olivieri AN, Cimaz R, Susic G, Stanevica V, van Gijn M, Vitale A, Ruperto N, Frenkel J, Gattorno M; Eurofever registry and the Pediatric Rheumatology International Trial Organization (PRINTO). Ter Haar NM, et al. Among authors: frenkel j. Ann Rheum Dis. 2019 Oct;78(10):1405-1411. doi: 10.1136/annrheumdis-2018-214472. Epub 2019 Jul 5. Ann Rheum Dis. 2019. PMID: 31278138
Classification criteria for autoinflammatory recurrent fevers.
Gattorno M, Hofer M, Federici S, Vanoni F, Bovis F, Aksentijevich I, Anton J, Arostegui JI, Barron K, Ben-Cherit E, Brogan PA, Cantarini L, Ceccherini I, De Benedetti F, Dedeoglu F, Demirkaya E, Frenkel J, Goldbach-Mansky R, Gul A, Hentgen V, Hoffman H, Kallinich T, Kone-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Laxer RM, Livneh A, Obici L, Ozen S, Rowczenio D, Russo R, Shinar Y, Simon A, Toplak N, Touitou I, Uziel Y, van Gijn M, Foell D, Garassino C, Kastner D, Martini A, Sormani MP, Ruperto N; Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO). Gattorno M, et al. Among authors: frenkel j. Ann Rheum Dis. 2019 Aug;78(8):1025-1032. doi: 10.1136/annrheumdis-2019-215048. Epub 2019 Apr 24. Ann Rheum Dis. 2019. PMID: 31018962 Review.
341 results