Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS.

Genetic profiling of autoinflammatory disorders in patients with periodic fever: a prospective study

VUCH, JOSEF;DE MARTINO, ELEONORA;BIANCO, ANNA MONICA ROSARIA;RONFANI, LUCA;ATHANASAKIS, EMMANOUIL;CROVELLA, SERGIO;TADDIO, ANDREA
;
TOMMASINI, ALBERTO
2015-01-01

Abstract

Periodic fever syndromes (PFS) are an emerging group of autoinflammatory disorders. Clinical overlap exists and multiple genetic analyses may be needed to assist diagnosis. We evaluated the diagnostic value of a 5-gene sequencing panel (5GP) in patients with undiagnosed PFS.
File in questo prodotto:
File Dimensione Formato  
genetic profiling.pdf

accesso aperto

Descrizione: pdf editoriale
Tipologia: Documento in Versione Editoriale
Licenza: Digital Rights Management non definito
Dimensione 748.49 kB
Formato Adobe PDF
748.49 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11368/2838261
Citazioni
  • ???jsp.display-item.citation.pmc??? 5
  • Scopus 19
  • ???jsp.display-item.citation.isi??? 20
social impact