Abstracts tagged "Traps and genetic disorders"

Abstract Number: 2012 • 2018 ACR/ARHP Annual Meeting
The Novel G58V Mutation in the TNFRSF1A Gene Identified in a Family with Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) Decreases the Cell Surface Expression of TNFR1
Shoko Tsuji¹, Hidenori Matsuzaki², Tomoyuki Mukai¹, Akiko Nagasu¹, Hiroyasu Hirano¹, Masanori Iseki³, Takahiko Horiuchi⁴, Ryuta Nishikomori⁵ and Yoshitaka Morita¹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Life Sciences, Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, Hiroshima, Japan, ³Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, ⁴Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, ⁵Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan
Background/Purpose: TNF Receptor- Associated Periodic Syndrome (TRAPS) is one of the autoinflammatory diseases characterized by recurrent inflammatory episodes. TRAPS is caused by an autosomal dominant…