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Article

Novel Munc13–4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

6 Jul 2006

Abstract excerpt

Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder characterised by constitutive defects in cellular cytotoxicity resulting in fever, hepatosplenomegaly and cytopenia, and the outcome is fatal unless treated by chemoimmunotherapy followed by haematopoietic stem-cell transplantation. Since 1999, mutations in the perforin gene giving rise to this disease have been identified;...

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PMID: 16825436
DOI: 10.1136/jmg.2006.041863

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