J
Joost Frenkel
Researcher at Utrecht University
Publications - 107
Citations - 6723
Joost Frenkel is an academic researcher from Utrecht University. The author has contributed to research in topics: Familial Mediterranean fever & Mevalonate kinase deficiency. The author has an hindex of 40, co-authored 99 publications receiving 5730 citations. Previous affiliations of Joost Frenkel include Erasmus University Rotterdam & University Medical Center Utrecht.
Papers
More filters
Journal ArticleDOI
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
Ivona Aksentijevich,Seth L. Masters,Polly J. Ferguson,Paul Dancey,Joost Frenkel,Annet van Royen-Kerkhoff,R. M. Laxer,Ulf Tedgård,Edward W. Cowen,Tuyet-Hang Pham,Matthew G. Booty,Jacob D. Estes,Netanya G. Sandler,Nicole Plass,Deborah L. Stone,Maria L. Turner,Suvimol Hill,John A. Butman,Rayfel Schneider,Paul Babyn,Hatem El-Shanti,Elena Pope,Karyl S. Barron,Xinyu Bing,Arian Laurence,Chyi-Chia Richard Lee,Dawn Chapelle,Gillian I. Clarke,Kamal Ohson,Marc Nicholson,Massimo Gadina,Barbara Yang,Benjamin D. Korman,Peter K. Gregersen,P. Martin van Hagen,A. Elisabeth Hak,Marjan Huizing,Proton Rahman,Daniel C. Douek,Elaine F. Remmers,Daniel L. Kastner,Raphaela Goldbach-Mansky +41 more
TL;DR: The term deficiency of the interleukin-1-receptor antagonist, or DIRA, is proposed to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN, resulting in life-threatening systemic inflammation with skin and bone involvement.
Journal ArticleDOI
Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome.
Jeroen Van der Hilst,Evelien J. Bodar,Karyl S. Barron,Joost Frenkel,Joost P.H. Drenth,Jos W. M. van der Meer,Anna Simon +6 more
TL;DR: Social functioning, general health perception, and vitality were significantly lower in patients with HIDS than in controls, as were autonomy and social development, and HIDS had an adverse impact on educational achievements and employment status.
Journal ArticleDOI
Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
Nienke M. ter Haar,Helen J. Lachmann,Seza Ozen,P Woo,Yosef Uziel,Consuelo Modesto,Isabelle Koné-Paut,Luca Cantarini,Antonella Insalaco,Bénédicte Neven,Michael Hofer,Donato Rigante,Sulaiman M. Al-Mayouf,Isabelle Touitou,Romina Gallizzi,Efimia Papadopoulou-Alataki,Silvana Martino,Jasmin B Kuemmerle-Deschner,Laura Obici,Nicolae Iagaru,Anna Simon,Susan Nielsen,Alberto Martini,Nicolino Ruperto,Marco Gattorno,Joost Frenkel +25 more
TL;DR: Evaluating the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review found that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS and Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS.
Journal ArticleDOI
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes
Fabrizio De Benedetti,Marco Gattorno,Jordi Anton,Eldad Ben-Chetrit,Joost Frenkel,Hal M. Hoffman,Isabelle Koné-Paut,Helen J. Lachmann,Seza Ozen,Anna Simon,Andrew Zeft,Inmaculada Calvo Penades,Michel Moutschen,Pierre Quartier,Ozgur Kasapcopur,Anna Shcherbina,Michael Hofer,Philip J. Hashkes,Jeroen Van der Hilst,Ryoki Hara,Segundo Bujan-Rivas,Tamás Constantin,Ahmet Gül,Avi Livneh,Paul A. Brogan,Marco Cattalini,Laura Obici,Karine Lheritier,A. Speziale,Guido Junge +29 more
TL;DR: In this trial, canakinumab was effective in controlling and preventing flares in patients with colchicine‐resistant familial Mediterranean fever, mevalonate kinase deficiency, and TRAPS.
Journal ArticleDOI
Classification criteria for autoinflammatory recurrent fevers
Marco Gattorno,Michael Hofer,Silvia Federici,Federica Vanoni,Francesca Bovis,Ivona Aksentijevich,Jordi Anton,Juan I. Aróstegui,Karyl S. Barron,Eldad Ben-Cherit,Paul A. Brogan,Luca Cantarini,Isabella Ceccherini,Fabrizio De Benedetti,Fatma Dedeoglu,Erkan Demirkaya,Joost Frenkel,Raphaela Goldbach-Mansky,Ahmet Gül,Véronique Hentgen,Hal M. Hoffman,Tilmann Kallinich,Isabelle Koné-Paut,Jasmin B Kuemmerle-Deschner,Helen J. Lachmann,Ronald M. Laxer,Avi Livneh,Laura Obici,Seza Ozen,Dorota Rowczenio,Ricardo Russo,Yael Shinar,Anna Simon,Nataša Toplak,Isabelle Touitou,Yosef Uziel,Marielle E. van Gijn,Dirk Foell,Claudia Garassino,DL Kastner,Alberto Martini,Maria Pia Sormani,Nicolino Ruperto +42 more
TL;DR: Eurofever proposes a novel set of validated classification criteria for HRF and PFAPA with high sensitivity and specificity and shows a high accuracy in an independent data set of 1018 patients.