A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist

A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist

The article presents a clinical case of a rare autoinflammatory disease – a family case of Muckle – Wells syndrome. The diversity of clinical manifestations and the impossibility of confirming the diagnosis without a genetic study by DNA sequencing determine the complexity of and delay in the diagno...

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Bibliographic Details
Main Authors: Yu. D. Kurochkina, M. A. Korolev, E. A. Letyagina, V. S. Fishman, M. M. Gridina, E. S. Valeeva
Format: Article
Language:English
Published: Siberian State Medical University (Tomsk) 2023-07-01
Series:Бюллетень сибирской медицины
Subjects:
autoinflammatory diseases
dna sequencing
muckle – wells syndrome
Online Access:https://bulletin.ssmu.ru/jour/article/view/5234
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