Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

Rudd, E.; Bryceson, Y.; Zheng, C.; Edner, J.; Wood, S.; Ramme, K.; Gavhed, S.; Gurgey, AYTEMİZ; Hellebostad, M.; Bechensteen, A.; Ljunggren, H-G; Fadeel, B.; Nordenskjold, M.; Henter, J-I

doi:10.1136/jmg.2007.054288

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

Rudd E., Bryceson Y. T., Zheng C., Edner J., Wood S. M., Ramme K., ...Daha Fazla

JOURNAL OF MEDICAL GENETICS, cilt.45, sa.3, ss.134-141, 2008 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 3
Basım Tarihi: 2008
Doi Numarası: 10.1136/jmg.2007.054288
Dergi Adı: JOURNAL OF MEDICAL GENETICS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.134-141
Hacettepe Üniversitesi Adresli: Evet

Özet

Objective: Familial haemophagocytic lymphohistiocytosis (FHL) is a fatal disorder of immune dysregulation with defective cytotoxic lymphocyte function. Disease-causing mutations have been identified in the genes encoding perforin (PRF1), syntaxin-11 (STX11), and Munc13-4 (UNC13D). We screened for UNC13D mutations and studied clinical and functional implications of such mutations in a well defined patient cohort.