Joost Frenkel

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

Ivona Aksentijevich, Seth L. Masters, Polly J. Ferguson et al. · New England Journal of Medicine · 2009 · 992 citations · Full text

Medicine, Immunology, Pathology +17

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

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

Fabrizio De Benedetti, Marco Gattorno, Jordi Antón et al. · New England Journal of Medicine · 2018 · 473 citations · Full text

Life Sciences, Immunology, Internal Medicine +14

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

Jeroen C.H. van der Hilst, Evelien J. Bodar, Karyl S. Barron et al. · Medicine · 2008 · 400 citations · Full text

Medicine, Immunology, Internal Medicine +7

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

Helen J. Lachmann, Riccardo Papa, Kerstin Gerhold et al. · Annals of the Rheumatic Diseases · 2013 · 336 citations · Full text

Life Sciences, Clinical Sciences, Immunology +14