User profiles for Joost Frenkel

J. Frenkel

kinderarts UMC Utrecht
Verified email at umcutrecht.nl
Cited by 11663

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

…, A Martini, N Ruperto, M Gattorno, J Frenkel… - Annals of the …, 2013 - ard.bmj.com
Objective To evaluate the response to treatment of autoinflammatory diseases from an
international registry and an up-to-date literature review. Methods The response to treatment was …

Classification criteria for autoinflammatory recurrent fevers

…, F Dedeoglu, E Demirkaya, J Frenkel… - Annals of the …, 2019 - ard.bmj.com
Background Different diagnostic and classification criteria are available for hereditary
recurrent fevers (HRF)—familial Mediterranean fever (FMF), tumour necrosis factor receptor-…

Recommendations for the management of autoinflammatory diseases

…, NM Wulffraat, SM Benseler, J Frenkel… - Annals of the …, 2015 - ard.bmj.com
<p>Autoinflammatory diseases are characterised by fever and systemic inflammation, with
potentially serious complications. Owing to the rarity of these diseases, evidence-based …

[HTML][HTML] An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist

…, PJ Ferguson, P Dancey, J Frenkel… - … England Journal of …, 2009 - Mass Medical Soc
Background Autoinflammatory diseases manifest inflammation without evidence of infection,
high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations …

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

…, A van Royen-Kerkhof, GJ Romeijn, J Frenkel… - Nature …, 1999 - nature.com
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an
autosomal recessive disorder characterized by recurrent episodes of fever associated with …

Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome

JCH van der Hilst, EJ Bodar, KS Barron, J Frenkel… - Medicine, 2008 - journals.lww.com
The hyperimmunoglobulinemia D and periodic fever syndrome (HIDS), one of the autoinflammatory
syndromes, is caused by mutations in the gene coding for mevalonate kinase (MVK). …

[HTML][HTML] Canakinumab for the treatment of autoinflammatory recurrent fever syndromes

…, J Anton, E Ben-Chetrit, J Frenkel… - … England Journal of …, 2018 - Mass Medical Soc
Background Familial Mediterranean fever, mevalonate kinase deficiency (also known as the
hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor–associated …

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter …

…, B Neven, M Van Gijn, J Frenkel… - Arthritis & …, 2011 - Wiley Online Library
Objective Chronic infantile neurologic, cutaneous, articular (CINCA) syndrome, also known
as neonatal‐onset multisystem inflammatory disease (NOMID), is a dominantly inherited …

The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international …

…, L Obici, I Touitou, L Cantarini, J Frenkel… - Annals of the …, 2014 - ard.bmj.com
Objective To evaluate the genetic findings, demographic features and clinical presentation
of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in …

Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

…, A Simon, H Ozdogan, I Touitou, J Frenkel… - Annals of the …, 2015 - ard.bmj.com
The objective of this work was to develop and validate a set of clinical criteria for the
classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial …