Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab
T. V. Sleptsova,
E. I. Alexeeva,
K. V. Savostyanov,
A. A. Pushkov,
T. M. Bzarova,
K. B. Isaeva,
R. V. Denisova https://doi.org/10.15690/pf.v13i4.1615
Abstract
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 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. A successful use of monoclonal antibodies to interleukin 1 — canakinumab — in the patient is described. As a result, fever and abdominal syndromes have completely stopped, while knee joints pain decreased a day later. After a week of treatment, the child’s disease activity laboratory indices returned to normal (ESR, C-reactive protein). No exacerbations were fixed over the next 32 weeks. No adverse effects were registered during canakinumab therapy. Thus, 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 α gene receptor. This indicates therapeutic use prospects for the interleukin 1 β blocker in TRAPS syndrome patients.
About the Authors
T. V. Sleptsova
Scientific Center of Children Health
Russian Federation
Moscow
Russian Federation
Moscow
E. I. Alexeeva
Scientific Center of Children Health;
Sechenov First Moscow State Medical University
Russian Federation
Moscow
Russian Federation
Moscow
K. V. Savostyanov
Scientific Center of Children Health
Russian Federation
Moscow
Russian Federation
Moscow
A. A. Pushkov
Scientific Center of Children Health
Russian Federation
Moscow
Russian Federation
Moscow
T. M. Bzarova
Scientific Center of Children Health;
Sechenov First Moscow State Medical University
Russian Federation
Moscow
Russian Federation
Moscow
K. B. Isaeva
Scientific Center of Children Health
Russian Federation
Moscow
Russian Federation
Moscow
R. V. Denisova
Scientific Center of Children Health
Russian Federation
Moscow
Russian Federation
Moscow
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For citations:
Sleptsova T.V., Alexeeva E.I., Savostyanov K.V., Pushkov A.A., Bzarova T.M., Isaeva K.B., Denisova R.V. Treating TRAPS Syndrome with a Previously Undescribed TNF α Gene Receptor Mutation Successfully with Canakinumab. Pediatric pharmacology. 2016;13(4):399-403. (In Russ.) https://doi.org/10.15690/pf.v13i4.1615
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