Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Tesi, Bianca; Lagerstedt-Robinson, Kristina; Chiang, Samuel; Ben Bdira, Eya; Abboud, Miguel; Belen, Burcu; Devecioglu, Ömer; Fadoo, Zehra; Yeoh, Allen; Erichsen, Hans; Mottonen, Merja; Akar, Himmet; Hastbacka, Johanna; Kaya, Zuhre; Nunes, Susana; PATIROĞLU, TÜRKAN; Sabel, Magnus; Saribeyoglu, Ebru; Tvedt, Tor; ÜNAL, EKREM; Unal, Sule; Unuvar, AYŞEGÜL; Meeths, Marie; Henter, Jan-Inge; Nordenskjold, Magnus; Bryceson, Yenan

doi:10.1186/s13073-015-0244-1

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, Scopus)

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.