Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.

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Tesi B., Lagerstedt-Robinson K., Chiang S. C. C., Ben Bdira E., Abboud M., Belen B., ...Daha Fazla

Genome medicine, cilt.7, ss.130, 2015 (SCI-Expanded) identifier identifier identifier

Özet

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.