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prof. dr. J. (Joost) Frenkel

Full Professor

  • Physician assistant children

prof. dr. J. (Joost) Frenkel

Research Programs

Biography

Joost Frenkel is a professor of pediatrics with a focus on family and patient centered education

He is a distinguished medical teacher with ample experience in development and provision of education to medical students residents and faculty.

He is an experienced pediatrician with a profound interest and expertise in autoinflammatory diseases.

These are disorders in which the innate inflammatory response runs out of control.

For these rare patients Frenkel leads an (inter)national clinical, genetic and research reference center.

Research has focused on the hyper IgD periodic fever syndrome due to mevalonate kinase deficiency.

International collaboration includes the Eurofever network and the international association for autoinflammatory diseases, as well as bilateral collaboration with the NIH.

Side Activities

    • Member scientific board Eurofever
      Member scientific board International Society for Autoinflammatory Diseases
      Member of advisory board to Novartis Pharma on autoinflammatory diseases
    • Member of the Dutch pediatric residency council (consilium paediatricum)

Research Output (142)

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, 1 okt 2019, In: Annals of the Rheumatic Diseases. 78 , p. 1405-1411 7 p.

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Kant Benjamin, Carbo Ellen C., Kokmeijer Iris, Oosterman Jelske J.M., Frenkel Joost, Swertz Morris A., Ploos van Amstel Johannes K., Aróstegui Juan I., Koudijs Marco J., van Gijn Mariëlle E. 20 aug 2019, In: Journal of Molecular Diagnostics. 21 , p. 943-950 8 p.

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 Nataša, Touitou Isabelle, Uziel Yosef, Van Gijn Marielle, Foell Dirk, Garassino Claudia, Kastner Dan, Martini Alberto, Sormani Maria Pia, Ruperto Nicolino 24 apr 2019, In: Annals of the Rheumatic Diseases. 78 , p. 1025-1032 8 p.

In silico validation of the autoinflammatory disease damage index

Ter Haar Nienke M., Van Delft Amber Laetitia Justine, Annink Kim Valerie, Van Stel Henk, Al-Mayouf Sulaiman M., Amaryan Gayane, Anton Jordi, Barron Karyl S., Benseler Susanne, Brogan Paul A., Cantarini Luca, Cattalini Marco, Cochino Alexis Virgil, De Benedetti Fabrizio, Dedeoglu Fatma, De Jesus Adriana Almeida, 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, Kone-Paut Isabelle, Kozlova Anna, Kuemmerle-Deschner Jasmin Beate, Lachmann Helen J., Laxer Ronald M., Martini Alberto, Nielsen Susan, Nikishina Irina, Ombrello Amanda K., Özen Seza, Papadopoulou-Alataki Efimia, Quartier Pierre, Rigante Donato, Russo Ricardo, Simon Anna, Trachana Maria, Uziel Yosef, Ravelli Angelo, Schulert Grant, Gattorno Marco, Frenkel Joost 1 nov 2018, In: Annals of the Rheumatic Diseases. 77 , p. 1599-1605 7 p.

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 Silvia, Vanoni Federica, Ben-Chetrit Eldad, Cantarini Luca, Frenkel Joost, Goldbach-Mansky Raphaela, Gul Ahmet, Hoffman Hal, Koné-Paut Isabelle, Kuemmerle-Deschner Jasmin, Lachmann Helen J, Martini Alberto, Obici Laura, Ozen Seza, Simon Anna, Hofer Michael, Ruperto Nicolino, Gattorno Marco, 1 nov 2018, In: Journal of Rheumatology. 46 , p. 429-436 8 p.

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

Bonekamp Nadia E, Caorsi Roberta, Frenkel Joost, Gattorno Marco nov 2018, In: Annals of the Rheumatic Diseases. 77

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 aug 2018, In: Annals of the Rheumatic Diseases. 77 , p. 1241-1243

Canakinumab for the treatment of autoinflammatory recurrent fever syndromes

De Benedetti Fabrizio, Gattorno Marco, Anton Jordi, Eldad Ben Chetrit, Frenkel Joost, Hoffman Hal M., Isabelle Koné Paut, Lachmann Helen J., Ozen Seza, Simon Anna, Zeft Andrew, Penades Inmaculada Calvo, Moutschen Michel, Quartier Pierre, Kasapcopur Ozgur, Shcherbina Anna, Hofer Michael, Hashkes Philip J., Van der Hilst Jeroen, Hara Ryoki, Segundo Bujan Rivas, Constantin Tamas, Gul Ahmet, Livneh Avi, Brogan Paul, Cattalini Marco, Obici Laura, Lheritier Karine, Speziale Antonio, Junge Guido 17 mei 2018, In: New England Journal of Medicine. 378 , p. 1908-1919 12 p.

Juvenile interleukin-36 receptor antagonist deficiency (DITRA) with c.80T>C (p.Leu27Pro) mutation successfully treated with etanercept and acitretin

Cuperus Edwin, Koevoets Rosanne, van der Smagt Jasper J., Toonstra Johan, de Graaf Marlies, Frenkel Joost, Pasmans Suzanne G.M.A. 1 mrt 2018, In: JAAD Case Reports. 4 , p. 192-195 4 p.

Flexibility in Postgraduate Medical Training in the Netherlands

Hoff Reinier G., Frenkel Joost, Imhof Saskia M., Ten Cate Olle mrt 2018, In: Academic Medicine. 93 , p. S32-S36

All Research Output (142)