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

Слепцова, Т. В.; Алексеева, Е. И.; Савостьянов, К. В.; Pushkov, Alexander; Бзарова, Т. М.; Исаева, К. Б.; Денисова, Р. В.

doi:10.15690/pf.v13i4.1615

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“…При обследовании в НМИЦЗД выявлена мутация гена TNFRSF1A в экзоне 4, c.336_338delGGA: p.113delE, ранее не описанная в базе HGMD, диагноз сформулирован как «Юношеский артрит с системным началом. TRAPS», и назначен канакинумаб в дозе 2 мг/кг 1 раз в 8 недель [23]. Ввиду стабилизации состояния и достижения клинико-лабораторной ремиссии ребенку по месту жительства было отказано в продлении инвалидности и, соответственно, отменен ГИБП.…”

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Clinical and Genetic Characteristics, Target Therapy Results in Children with Traps Syndrome (on Clinical Surveillance Data)

Antsiferova

Cherkashina

Volf

et al. 2021

Naučno-praktičeskaâ revmatologiâ

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The complexity of diagnosing and predicting the course of TNF-receptor-associated periodic syndrome TRAPS determines the importance of studying the dependence of clinical manifestations on the variant of genetic mutation and the presence of modifier genes. We observed 5 children with an identified diagnosis of TRAPS. It was established that the disease onset in most cases is defined as a juvenile arthritis with systemic onset. Genetic variants with the replacement of cysteine residues are associated with an early debut and an aggressive course, the c.362G> A p.R121Q mutation is associated with an erosive damage to the spine. The case of a favorable course of TRAPS in siblings with a newly detected mutation is described. The development of urgent complications of TRAPS was revealed when basic therapy with canakinumab was canceled.

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