Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Author
Yeoh, Allen E. J.
Tesi, Bianca
Lagerstedt-Robinson, Kristina
Chiang, Samuel C. C.
Ben Bdira, Eya
Abboud, Miguel
Belen, Burcu
Fadoo, Zehra
Erichsen, Hans Christian
Mottonen, Merja
Akar, Himmet Haluk
Hastbacka, Johanna
Kaya, Zuhre
Nunes, Susana
PATIROĞLU, TÜRKAN
Sabel, Magnus
Saribeyoglu, Ebru Tugrul
Tvedt, Tor Henrik
ÜNAL, EKREM
Unal, Sule
Meeths, Marie
Henter, Jan-Inge
Nordenskjold, Magnus
Bryceson, Yenan T.
Devecioglu, Omer
Unuvar, Aysegul
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Abstract
Background: Hemophagocytic lymphohistiocytosis (HLH) is a rapid-onset, potentially fatal hyperinflammatory syndrome. A prompt molecular diagnosis is crucial for appropriate clinical management. Here, we validated and prospectively evaluated a targeted high-throughput sequencing approach for HLH diagnostics.
URI
http://hdl.handle.net/20.500.12627/99491
https://doi.org/10.1186/s13073-015-0244-1
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