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An International Delphi Survey for the Definition of New Classification Criteria for Familial Mediterranean Fever, Mevalonate Kinase Deficiency, TNF Receptor-associated Periodic Fever Syndromes, and Cryopyrin-associated Periodic Syndrome.
Federici S, Vanoni F, Ben-Chetrit E, Cantarini L, Frenkel J, Goldbach-Mansky R, Gul A, Hoffman H, Koné-Paut I, Kuemmerle-Deschner J, Lachmann HJ, Martini A, Obici L, Ozen S, Simon A, Hofer M, Ruperto N, Gattorno M; Eurofever and the Pediatric Rheumatology International Trials Organization (PRINTO). Federici S, et al. J Rheumatol. 2019 Apr;46(4):429-436. doi: 10.3899/jrheum.180056. Epub 2018 Nov 1. J Rheumatol. 2019. PMID: 30385706
Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome.
de Jesus AA, Chen G, Yang D, Brdicka T, Ruth NM, Bennin D, Cebecauerova D, Malcova H, Freeman H, Martin N, Svojgr K, Passo MH, Bhuyan F, Alehashemi S, Rastegar AT, Uss K, Kardava L, Marrero B, Duric I, Omoyinmi E, Peldova P, Lee CR, Kleiner DE, Hadigan CM, Hewitt SM, Pittaluga S, Carmona-Rivera C, Calvo KR, Shah N, Balascakova M, Fink DL, Kotalova R, Parackova Z, Peterkova L, Kuzilkova D, Campr V, Sramkova L, Biancotto A, Brooks SR, Manes C, Meffre E, Harper RL, Kuehn H, Kaplan MJ, Brogan P, Rosenzweig SD, Merchant M, Deng Z, Huttenlocher A, Moir SL, Kuhns DB, Boehm M, Skvarova Kramarzova K, Goldbach-Mansky R. de Jesus AA, et al. Nat Commun. 2023 Mar 17;14(1):1502. doi: 10.1038/s41467-023-36941-y. Nat Commun. 2023. PMID: 36932076 Free PMC article.
A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference.
Piram M, Frenkel J, Gattorno M, Ozen S, Lachmann HJ, Goldbach-Mansky R, Hentgen V, Neven B, Stojanovic KS, Simon A, Kuemmerle-Deschner J, Hoffman H, Stojanov S, Duquesne A, Pillet P, Martini A, Pouchot J, Koné-Paut I; EUROFEVER and EUROTRAPS networks. Piram M, et al. Ann Rheum Dis. 2011 Feb;70(2):309-14. doi: 10.1136/ard.2010.132613. Epub 2010 Nov 15. Ann Rheum Dis. 2011. PMID: 21081528 Free PMC article.
Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS).
Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman HM, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler SM. Kuemmerle-Deschner JB, et al. Ann Rheum Dis. 2017 Jun;76(6):942-947. doi: 10.1136/annrheumdis-2016-209686. Epub 2016 Oct 4. Ann Rheum Dis. 2017. PMID: 27707729 Review.
Development of the autoinflammatory disease damage index (ADDI).
Ter Haar NM, Annink KV, Al-Mayouf SM, Amaryan G, Anton J, Barron KS, Benseler SM, Brogan PA, Cantarini L, Cattalini M, Cochino AV, De Benedetti F, Dedeoglu F, De Jesus AA, Della Casa Alberighi O, Demirkaya E, Dolezalova P, Durrant KL, Fabio G, Gallizzi R, Goldbach-Mansky R, Hachulla E, Hentgen V, Herlin T, Hofer M, Hoffman HM, Insalaco A, Jansson AF, Kallinich T, Koné-Paut I, Kozlova A, Kuemmerle-Deschner JB, Lachmann HJ, Laxer RM, Martini A, Nielsen S, Nikishina I, Ombrello AK, Ozen S, Papadopoulou-Alataki E, Quartier P, Rigante D, Russo R, Simon A, Trachana M, Uziel Y, Ravelli A, Gattorno M, Frenkel J. Ter Haar NM, et al. Ann Rheum Dis. 2017 May;76(5):821-830. doi: 10.1136/annrheumdis-2016-210092. Epub 2016 Nov 3. Ann Rheum Dis. 2017. PMID: 27811147 Free article.
Clinical and Molecular Phenotypes of Low-Penetrance Variants of NLRP3: Diagnostic and Therapeutic Challenges.
Kuemmerle-Deschner JB, Verma D, Endres T, Broderick L, de Jesus AA, Hofer F, Blank N, Krause K, Rietschel C, Horneff G, Aksentijevich I, Lohse P, Goldbach-Mansky R, Hoffman HM, Benseler SM. Kuemmerle-Deschner JB, et al. Arthritis Rheumatol. 2017 Nov;69(11):2233-2240. doi: 10.1002/art.40208. Epub 2017 Oct 17. Arthritis Rheumatol. 2017. PMID: 28692792
210 results