Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

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

GENOME MEDICINE, cilt.7, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 7
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1186/s13073-015-0244-1
  • Dergi Adı: GENOME MEDICINE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • İstanbul Üniversitesi Adresli: Evet

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.