Authors
HJ Lachmann, R Papa, K Gerhold, L Obici, I Touitou, L Cantarini, J Frenkel, J Anton, I Kone-Paut, M Cattalini, B Bader-Meunier, A Insalaco, V Hentgen, R Merino, C Modesto, N Toplak, R Berendes, S Ozen, R Cimaz, A Jansson, PA Brogan, PN Hawkins, N Ruperto, A Martini, P Woo, M Gattorno
Publication date
2013/8/21
Journal
Annals of the rheumatic diseases
Pages
annrheumdis-2013-204184
Publisher
BMJ Publishing Group Ltd and European League Against Rheumatism
Description
Objective
To evaluate the genetic findings, demographic features and clinical presentation of tumour necrosis factor receptor-associated autoinflammatory syndrome (TRAPS) in patients from the Eurofever/EUROTRAPS international registry.
Methods
A web-based registry collected retrospective data on patients with TNFRSF1A sequence variants and inflammatory symptoms. Participating hospitals included paediatric rheumatology centres and adult centres with a specific interest in autoinflammatory diseases. Cases were independently validated by experts in the disease.
Results
Complete information on 158 validated patients was available. The most common TNFRSF1A variant was R92Q (34% of cases), followed by T50M (10%). Cysteine residues were disrupted in 27% of cases, accounting for 39% of sequence variants. A family history was present in 19% of patients with R92Q and 64% of those with other …
Scholar articles
HJ Lachmann, R Papa, K Gerhold, L Obici, I Touitou… - Annals of the rheumatic diseases, 2014