[Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)].

Abstract excerpt

Periodic episodes of fever and inflammation can have a genetic origin. Nowadays, the identification of the causative genetic variants in the majority of cases allows molecular genetic confirmation of the clinical diagnosis, which enables approaches with specific drug treatment and improves patien...

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