Pesquisa | Biblioteca Virtual em Saúde

1.

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

De Benedetti, Fabrizio; Gattorno, Marco; Anton, Jordi; Ben-Chetrit, Eldad; Frenkel, Joost; Hoffman, Hal M; Koné-Paut, Isabelle; Lachmann, Helen J; Ozen, Seza; Simon, Anna; Zeft, Andrew; Calvo Penades, Inmaculada; Moutschen, Michel; Quartier, Pierre; Kasapcopur, Ozgur; Shcherbina, Anna; Hofer, Michael; Hashkes, Philip J; Van der Hilst, Jeroen; Hara, Ryoki; Bujan-Rivas, Segundo; Constantin, Tamas; Gul, Ahmet; Livneh, Avi; Brogan, Paul; Cattalini, Marco; Obici, Laura; Lheritier, Karine; Speziale, Antonio; Junge, Guido.

N Engl J Med; 378(20): 1908-1919, 2018 05 17.

Artigo em Inglês | MEDLINE | ID: mdl-29768139

2.

Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases.

Ter Haar, Nienke M; Eijkelboom, Charlotte; Cantarini, Luca; Papa, Riccardo; Brogan, Paul A; Kone-Paut, Isabelle; Modesto, Consuelo; Hofer, Michael; Iagaru, Nicolae; Fingerhutová, Sárka; Insalaco, Antonella; Licciardi, Francesco; Uziel, Yosef; Jelusic, Marija; Nikishina, Irina; Nielsen, Susan; Papadopoulou-Alataki, Efimia; Olivieri, Alma Nunzia; Cimaz, Rolando; Susic, Gordana; Stanevica, Valda; van Gijn, Marielle; Vitale, Antonio; Ruperto, Nicolino; Frenkel, Joost; Gattorno, Marco.

Ann Rheum Dis; 78(10): 1405-1411, 2019 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-31278138

3.

Classification criteria for autoinflammatory recurrent fevers.

Gattorno, Marco; Hofer, Michael; Federici, Silvia; Vanoni, Federica; Bovis, Francesca; Aksentijevich, Ivona; Anton, Jordi; Arostegui, Juan Ignacio; Barron, Karyl; Ben-Cherit, Eldad; Brogan, Paul A; Cantarini, Luca; Ceccherini, Isabella; De Benedetti, Fabrizio; Dedeoglu, Fatma; Demirkaya, Erkan; Frenkel, Joost; Goldbach-Mansky, Raphaela; Gul, Ahmet; Hentgen, Veronique; Hoffman, Hal; Kallinich, Tilmann; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J; Laxer, Ronald M; Livneh, Avi; Obici, Laura; Ozen, Seza; Rowczenio, Dorota; Russo, Ricardo; Shinar, Yael; Simon, Anna; Toplak, Natasa; Touitou, Isabelle; Uziel, Yosef; van Gijn, Marielle; Foell, Dirk; Garassino, Claudia; Kastner, Dan; Martini, Alberto; Sormani, Maria Pia; Ruperto, Nicolino.

Ann Rheum Dis; 78(8): 1025-1032, 2019 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-31018962

4.

Development of the autoinflammatory disease damage index (ADDI).

Ter Haar, Nienke M; Annink, Kim V; Al-Mayouf, Sulaiman M; Amaryan, Gayane; Anton, Jordi; Barron, Karyl S; Benseler, Susanne M; Brogan, Paul A; Cantarini, Luca; Cattalini, Marco; Cochino, Alexis-Virgil; De Benedetti, Fabrizio; Dedeoglu, Fatma; De Jesus, Adriana A; Della Casa Alberighi, Ornella; Demirkaya, Erkan; Dolezalova, Pavla; Durrant, Karen L; Fabio, Giovanna; Gallizzi, Romina; Goldbach-Mansky, Raphaela; Hachulla, Eric; Hentgen, Veronique; Herlin, Troels; Hofer, Michaël; Hoffman, Hal M; Insalaco, Antonella; Jansson, Annette F; Kallinich, Tilmann; Koné-Paut, Isabelle; Kozlova, Anna; Kuemmerle-Deschner, Jasmin B; Lachmann, Helen J; Laxer, Ronald M; Martini, Alberto; Nielsen, Susan; Nikishina, Irina; Ombrello, Amanda K; Ozen, Seza; Papadopoulou-Alataki, Efimia; Quartier, Pierre; Rigante, Donato; Russo, Ricardo; Simon, Anna; Trachana, Maria; Uziel, Yosef; Ravelli, Angelo; Gattorno, Marco; Frenkel, Joost.

Ann Rheum Dis; 76(5): 821-830, 2017 May.

Artigo em Inglês | MEDLINE | ID: mdl-27811147

5.

A novel assessment tool for clinical care of patients with autoinflammatory disease: juvenile autoinflammatory disease multidimensional assessment report.

Konukbay, Dilek; Gattorno, Marco; Yildiz, Dilek; Frenkel, Joost; Acikel, Cengizhan; Sozeri, Betul; Makay, Balahan; Aktay Ayaz, Nuray; Barut, Kenan; Kisaarslan, Aysenur; Bilginer, Yelda; Karaman, Dursun; Peru, Harun; Simsek, Dogan; Aydog, Ozlem; Unsal, Erbil; Gunduz, Zubeyde; Fidanci, Berna Eren; Kone-Paut, Isabelle; Kasapcopur, Ozgur; Ravelli, Angelo; Ozen, Seza; Demirkaya, Erkan.

Clin Exp Rheumatol; 34(6 Suppl 102): 129-135, 2016 Sep-Oct.

Artigo em Inglês | MEDLINE | ID: mdl-27791950

6.

Unprenylated RhoA contributes to IL-1ß hypersecretion in mevalonate kinase deficiency model through stimulation of Rac1 activity.

van der Burgh, Robert; Pervolaraki, Kalliopi; Turkenburg, Marjolein; Waterham, Hans R; Frenkel, Joost; Boes, Marianne.

J Biol Chem; 289(40): 27757-65, 2014 Oct 03.

Artigo em Inglês | MEDLINE | ID: mdl-25107911

7.

Defects in mitochondrial clearance predispose human monocytes to interleukin-1ß hypersecretion.

van der Burgh, Robert; Nijhuis, Lotte; Pervolaraki, Kalliopi; Compeer, Ewoud B; Jongeneel, Lieneke H; van Gijn, Marielle; Coffer, Paul J; Murphy, Michael P; Mastroberardino, Pier G; Frenkel, Joost; Boes, Marianne.

J Biol Chem; 289(8): 5000-12, 2014 Feb 21.

Artigo em Inglês | MEDLINE | ID: mdl-24356959

8.

Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.

Giancane, Gabriella; Ter Haar, Nienke M; Wulffraat, Nico; Vastert, Sebastiaan J; Barron, Karyl; Hentgen, Veronique; Kallinich, Tilmann; Ozdogan, Huri; Anton, Jordi; Brogan, Paul; Cantarini, Luca; Frenkel, Joost; Galeotti, Caroline; Gattorno, Marco; Grateau, Gilles; Hofer, Michael; Kone-Paut, Isabelle; Kuemmerle-Deschner, Jasmin; Lachmann, Helen J; Simon, Anna; Demirkaya, Erkan; Feldman, Brian; Uziel, Yosef; Ozen, Seza.

Ann Rheum Dis; 74(4): 635-41, 2015 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-25628446

9.

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers.

Federici, Silvia; Sormani, Maria Pia; Ozen, Seza; Lachmann, Helen J; Amaryan, Gayane; Woo, Patricia; Koné-Paut, Isabelle; Dewarrat, Natacha; Cantarini, Luca; Insalaco, Antonella; Uziel, Yosef; Rigante, Donato; Quartier, Pierre; Demirkaya, Erkan; Herlin, Troels; Meini, Antonella; Fabio, Giovanna; Kallinich, Tilmann; Martino, Silvana; Butbul, Aviel Yonatan; Olivieri, Alma; Kuemmerle-Deschner, Jasmin; Neven, Benedicte; Simon, Anna; Ozdogan, Huri; Touitou, Isabelle; Frenkel, Joost; Hofer, Michael; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco.

Ann Rheum Dis; 74(5): 799-805, 2015 May.

Artigo em Inglês | MEDLINE | ID: mdl-25637003

10.

Recommendations for the management of autoinflammatory diseases.

ter Haar, Nienke M; Oswald, Marlen; Jeyaratnam, Jerold; Anton, Jordi; Barron, Karyl S; Brogan, Paul A; Cantarini, Luca; Galeotti, Caroline; Grateau, Gilles; Hentgen, Veronique; Hofer, Michael; Kallinich, Tilmann; Kone-Paut, Isabelle; Lachmann, Helen J; Ozdogan, Huri; Ozen, Seza; Russo, Ricardo; Simon, Anna; Uziel, Yosef; Wouters, Carine; Feldman, Brian M; Vastert, Sebastiaan J; Wulffraat, Nico M; Benseler, Susanne M; Frenkel, Joost; Gattorno, Marco; Kuemmerle-Deschner, Jasmin B.

Ann Rheum Dis; 74(9): 1636-44, 2015 Sep.

Artigo em Inglês | MEDLINE | ID: mdl-26109736

11.

Treatment of hereditary autoinflammatory diseases.

Ter Haar, Nienke M; Frenkel, Joost.

Curr Opin Rheumatol; 26(3): 252-8, 2014 May.

Artigo em Inglês | MEDLINE | ID: mdl-24667287

12.

Response to: 'Novel NLRP12 variant presenting with familial cold autoimmunity syndrome phenotype' by Gupta et al.

Eijkelboom, Charlotte; Ter Haar, Nienke M; Frenkel, Joost; Gattorno, Marco.

Ann Rheum Dis; 2019 Sep 06.

Artigo em Inglês | MEDLINE | ID: mdl-31492705

13.

Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes.

Piram, Maryam; Koné-Paut, Isabelle; Lachmann, Helen J; Frenkel, Joost; Ozen, Seza; Kuemmerle-Deschner, Jasmin; Stojanov, Silvia; Simon, Anna; Finetti, Martina; Sormani, Maria Pia; Martini, Alberto; Gattorno, Marco; Ruperto, Nicolino.

Ann Rheum Dis; 73(12): 2168-73, 2014 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-24026675

14.

MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.

Stoffels, Monique; Szperl, Agata; Simon, Anna; Netea, Mihai G; Plantinga, Theo S; van Deuren, Marcel; Kamphuis, Sylvia; Lachmann, Helen J; Cuppen, Edwin; Kloosterman, Wigard P; Frenkel, Joost; van Diemen, Cleo C; Wijmenga, Cisca; van Gijn, Marielle; van der Meer, Jos W M.

Ann Rheum Dis; 73(2): 455-61, 2014 Feb.

Artigo em Inglês | MEDLINE | ID: mdl-23505238

15.

Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children.

Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane; Koné-Paut, Isabelle; Polat, Adem; Woo, Pat; Uziel, Yosef; Modesto, Consuelo; Finetti, Martina; Quartier, Pierre; Papadopoulou-Alataki, Efimia; Al-Mayouf, Sulaiman M; Fabio, Giovanna; Gallizzi, Romina; Cantarini, Luca; Frenkel, Joost; Nielsen, Susan; Hofer, Michael; Insalaco, Antonella; Acikel, C; Ozdogan, Huri; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco.

Ann Rheum Dis; 73(4): 662-7, 2014 Apr.

Artigo em Inglês | MEDLINE | ID: mdl-23463692

16.

Mevalonate kinase deficiency, a metabolic autoinflammatory disease.

van der Burgh, Robert; Ter Haar, Nienke M; Boes, Marianne L; Frenkel, Joost.

Clin Immunol; 147(3): 197-206, 2013 Jun.

Artigo em Inglês | MEDLINE | ID: mdl-23110805

17.

Response to: 'Standard dose of ustekinumab for childhood-onset deficiency of interleukin-36 receptor antagonist' by Cherqaoui et al.

Bonekamp, Nadia; Caorsi, Roberta; Frenkel, Joost; Gattorno, Marco.

Ann Rheum Dis; 77(12): e89, 2018 Dec.

Artigo em Inglês | MEDLINE | ID: mdl-29331963

18.

High-dose ustekinumab for severe childhood deficiency of interleukin-36 receptor antagonist (DITRA).

Bonekamp, Nadia; Caorsi, Roberta; Viglizzo, Gian Maria; Graaf, Marlies de; Minoia, Francesca; Grossi, Alice; Picco, Paolo; Ceccherini, Isabella; Frenkel, Joost; Gattorno, Marco.

Ann Rheum Dis; 77(8): 1241-1243, 2018 Aug.

Artigo em Inglês | MEDLINE | ID: mdl-28866646

19.

Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review.

Ter Haar, Nienke; Lachmann, Helen; Özen, Seza; Woo, Pat; Uziel, Yosef; Modesto, Consuelo; Koné-Paut, Isabelle; Cantarini, Luca; Insalaco, Antonella; Neven, Bénédicte; Hofer, Michael; Rigante, Donato; Al-Mayouf, Sulaiman; Touitou, Isabelle; Gallizzi, Romina; Papadopoulou-Alataki, Efimia; Martino, Silvana; Kuemmerle-Deschner, Jasmin; Obici, Laura; Iagaru, Nicolae; Simon, Anna; Nielsen, Susan; Martini, Alberto; Ruperto, Nicolino; Gattorno, Marco; Frenkel, Joost.

Ann Rheum Dis; 72(5): 678-85, 2013 May.

Artigo em Inglês | MEDLINE | ID: mdl-22753383

20.

Inflammasomes and viruses: cellular defence versus viral offence.

Gram, Anna M; Frenkel, Joost; Ressing, Maaike E.

J Gen Virol; 93(Pt 10): 2063-75, 2012 Oct.

Artigo em Inglês | MEDLINE | ID: mdl-22739062

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