Tumor necrosis factor receptor-associated periodic syndrome with a C30R mutation in a Japanese family
✍ Scribed by Kae Takagi; Yasushi Kawaguchi; Satoshi Fujikawa; Tomoko Otani; Tomoko Sugiura; Masako Hara
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 209 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1439-7595
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## Abstract ## Objective To investigate the effect of mutations in tumor necrosis factor receptor superfamily 1A (TNFRSF1A) on the ability of the receptors to be cleaved from the cell surface upon stimulation. The mutations we studied are associated with clinically distinct forms of TNF receptor–a
## Abstract ## Objective To investigate the prevalence of tumor necrosis factor receptor–associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent with TRAPS. ## Methods Mutational screening was performed in affected members of 18 fa