Abstracts tagged "Autoinflammatory Disease and Traps"

Abstract Number: 79 • 2017 ACR/ARHP Annual Meeting
Functional Analysis of the Novel G58V Mutation in the TNFRSF1A Gene Identified in a Family with TNF Receptor-Associated Periodic Syndrome (TRAPS)
Shoko Kodama¹, Hidenori Matsuzaki², Tomoyuki Mukai¹, Akiko Nagasu¹, Masanori Iseki³, Nami Kurosaki¹, Takafumi Mito¹, Shunichi Fujita¹, Takahiko Horiuchi⁴, Ryuta Nishikomori⁵ and Yoshitaka Morita¹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Hygiene, Kawasaki Medical School, Kurashiki, Okayama, 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: Mutations in the TNFRSF1A, which encodes tumor necrosis factor receptor 1 (TNFR1), are associated with the autosomal dominant disease TNF Receptor- Associated Periodic Syndrome…

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