Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype

Low-penetrance R92Q (p.Arg121Gln) mutation in the <i>TNFRSF1A</i> gene: the significance and variants of phenotypes. Successful experience with the interleukin-1 inhibitor canakinumab in a female patient, who is a carrier of R92Q mutation with a severe TRAPS phenotype

The paper is devoted to the assessment of the R92Q (p.Arg121Gln) mutation/polymorphism in the TNFRSF1A gene associated with the monogenic autoinflammatory disease – Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). It gives data on the frequency of this gene in the general populat...

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Bibliographic Details
Main Authors: E. S. Fedorov, S. O. Salugina, E. Yu. Zakharova, E. A. Kamenets, A. N. Gerasimenko
Format: Article
Language:Russian
Published: IMA-PRESS LLC 2020-09-01
Series:Современная ревматология
Subjects:
autoinflammatory diseases
tumor necrosis factor receptor-associated periodic syndrome
low-penetrance r92q mutation
canakinumab
Online Access:https://mrj.ima-press.net/mrj/article/view/1057

Internet

https://mrj.ima-press.net/mrj/article/view/1057

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