Experience of the successful treatment with canakinumab of a patient with NLPC4-associated autoinflammatory syndrome with enterocolitis
| Autor: | T. V. Sleptsova, E. I. Alexeeva, K. V. Savost’yanov, A. A. Pushkov, T. M. Bzarova, S. I. Valieva, O. L. Lomakina, R. V. Denisova, K. B. Isaeva, E. G. Chistyakova |
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| Jazyk: | ruština |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Педиатрическая фармакология, Vol 13, Iss 2, Pp 143-148 (2016) |
| Druh dokumentu: | article |
| ISSN: | 1727-5776 2500-3089 |
| DOI: | 10.15690/pf.v13i2.1555 |
| Popis: | The article shows the observation of rare NLPC4-associated autoinflammatory syndrome with enterocolitis and familial cold urticaria. Diagnosis is confirmed molecularly-genetically: previously not described mutation c.928C>T in the heterozygous state in NLRC4 gene is discovered by a method of the new generation sequencing. The use of a monoclonal antibody to the interleukin 1 canakinumab provided complete relief of fever and skin and intestinal symptoms in just 1 week of treatment. Later the signs of inflammation have disappeared completely; the patient’s quality of life improved and life-threatening complications were prevented. The above example demonstrates the high clinical efficacy of canakinumab in the patient with NLRC4-associated autoinflammatory syndrome and suggests promising therapeutic use of interleukin 1 blockers in such patients. There were no adverse events during canakinumab therapy. |
| Databáze: | Directory of Open Access Journals |
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