The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% of patients with clinical manifestations of SAID did not receive a molecular diagnosis, thus being classed as so-called undifferentiated or undefined SAID (uSAID). The aim of the present study was to evaluate a next-generation sequencing (NGS)-based clinically oriented protocol in patients with uSAID.
Next generation sequencing panel in undifferentiated autoinflammatory diseases identify patients with colchicine-responder recurrent fevers
Papa, Riccardo;Rusmini, Marta;Volpi, Stefano;Caorsi, Roberta;Grossi, Alice;Bovis, Francesca;MUSSO, VALERIA;Ravelli, Angelo;
2020-01-01
Abstract
The number of innate immune system disorders classified as systemic autoinflammatory diseases (SAID) has increased in recent years. More than 70% of patients with clinical manifestations of SAID did not receive a molecular diagnosis, thus being classed as so-called undifferentiated or undefined SAID (uSAID). The aim of the present study was to evaluate a next-generation sequencing (NGS)-based clinically oriented protocol in patients with uSAID.
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