Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in <i>TNFRSF1A</i> Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians

Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in <i>TNFRSF1A</i> Gene in a Family of the Adult Male with Renal AA Amyloidosis—Diagnostic and Therapeutic Challenge for Clinicians

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) belongs to systemic autoinflammatory diseases (AIDs). Many of these syndromes are genetically conditioned and can be inherited. Diagnosis relies on clinical symptoms and should be confirmed by genetic testing. One of the most seriou...

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Bibliographic Details
Main Authors: Jolanta Zegarska, Ewa Wiesik-Szewczyk, Ewa Hryniewiecka, Beata Wolska-Kusnierz, Dariusz Soldacki, Magdalena Kacprzak, Agnieszka Sobczynska-Tomaszewska, Kamila Czerska, Pawel Siedlecki, Karina Jahnz-Rozyk, Ewa Bernatowska, Radoslaw Zagozdzon, Leszek Paczek
Format: Article
Language:English
Published: MDPI AG 2021-01-01
Series:Journal of Clinical Medicine
Subjects:
new genetic variant
monogenic autoinflammatory syndrome
diagnostic delay
anakinra
damage index
genetic inheritance
Online Access:https://www.mdpi.com/2077-0383/10/3/465

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https://www.mdpi.com/2077-0383/10/3/465

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