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

• Main Authors: T. V. Sleptsova (Author), E. I. Alexeeva (Author), K. V. Savostyanov (Author), A. A. Pushkov (Author), T. M. Bzarova (Author), K. B. Isaeva (Author), R. V. Denisova (Author)
• Format: Book
• Published: Union of pediatricians of Russia, 2016-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...