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...

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Main Authors: T. V. Sleptsova, E. I. Alexeeva, K. V. Savostyanov, A. A. Pushkov, T. M. Bzarova, K. B. Isaeva, R. V. Denisova
Formato: Artigo
Idioma:Inglês
Publicado em: Paediatrician Publishers, LLC 2016-11-01
Colecção:Pediatričeskaâ Farmakologiâ
Assuntos:
children
autoinflammatory syndromes
molecular genetic diagnosis
traps
tnfrsf1a
new mutation
canakinumab
Acesso em linha:https://www.pedpharma.ru/jour/article/view/1449
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