Article
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
Journal of medical genetics - 1 Mar 2008
Rudd E, Bryceson Y T, Zheng C, Edner J, Wood S M, Ramme K, Gavhed S, Gürgey A, Hellebostad M, Bechensteen A G, Ljunggren H-G, Fadeel B, Nordenskjöld M, Henter J-I
Abstract excerpt
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....
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