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 İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 45 Konu: 3
  • Basım Tarihi: 2008
  • Doi Numarası: 10.1136/jmg.2007.054288
  • Dergi Adı: JOURNAL OF MEDICAL GENETICS
  • Sayfa Sayıları: ss.134-141

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.