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

T V Sleptsova,R V Denisova,E I Alexeeva,A A Pushkov,T M Bzarova,K V Savostyanov,K B Isaeva

doi:10.15690/pf.v13i4.1615

T V Sleptsova, R V Denisova + Show 5 more

Open Access

https://doi.org/10.15690/pf.v13i4.1615

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Abstract

научный биометрический журнал, который знакомит читателя с клиническими рекомендациями и особенностями применения лекарственных и вакцинных средств у детей, предоставляет исчерпывающую информацию о воздействии лекарственных средств на плод, о проводимых в

Highlights

The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS
During a molecular-genetic examination of a 9-year-old child, a c.337_339del deletion in the heterozygous state of the TNFRSF1A gene exon 04, leading to a p.Glu113del amino acid deletion, was found. This mutation has not been described previously in TRAPS patients, and according to computer analysis (Alamut Visual) the issue is pathogenic. This observation indicates the presence of families with TRAPS in the Russian population, who can have «atypical» TNFRSF1A gene mutations
No adverse effects were registered during canakinumab therapy

Summary

Introduction

The article presents an observation of one of the most common autoinflammatory syndromes — TRAPS (periodic syndrome associated with a mutation in the TNF ␣ receptor gene). This observation indicates the presence of families with TRAPS in the Russian population, who can have «atypical» TNFRSF1A gene mutations. Canakinumab has demonstrated a high level of effectiveness and safety for the patient suffering from a periodic syndrome associated with a mutation in the TNF ␣ gene receptor.

Results

Conclusion