Experience of the successful treatment with canakinumab of a patient with NLPC4-associated autoinflammatory syndrome with enterocolitis

• Główni autorzy: T. V. Sleptsova (Autor), E. I. Alexeeva (Autor), K. V. Savost'yanov (Autor), A. A. Pushkov (Autor), T. M. Bzarova (Autor), S. I. Valieva (Autor), O. L. Lomakina (Autor), R. V. Denisova (Autor), K. B. Isaeva (Autor), E. G. Chistyakova (Autor)
• Format: Książka
• Wydane: Union of pediatricians of Russia, 2016-06-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...