Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab

The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS (periodic syndrome associated with a mutation in the TNF α receptor gene). During a molecular-genetic examination of a 9-year-old child, a c.337_339del deletion in the heterozygous state of the TNFRSF1A...

詳細記述

書誌詳細

出版年:	Педиатрическая фармакология
主要な著者:	T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova
フォーマット:	論文
言語:	ロシア語
出版事項:	Union of pediatricians of Russia 2016-11-01
主題:	children autoinflammatory syndromes molecular genetic diagnosis traps tnfrsf1a new mutation canakinumab
オンライン･アクセス:	https://www.pedpharma.ru/jour/article/view/1449