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

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

JOURNAL OF MEDICAL GENETICS, vol.45, no.3, pp.134-141, 2008 (SCI-Expanded)

Publication Type: Article / Article
Volume: 45 Issue: 3
Publication Date: 2008
Doi Number: 10.1136/jmg.2007.054288
Journal Name: JOURNAL OF MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.134-141
Hacettepe University Affiliated: Yes

Abstract

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.