Familial hemophagocytic lymphohistiocytosis 3 is an autosomal recessive siorder caused by mutations of the UNC13D gene. It is characterized by pancytopenia pertially due to phagocytosis of blood cells and bone marro replacement by histiocytocis.
1. |
Zur Stadt U et al. (2006) Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. |
2. |
Feldmann J et al. (2003) Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). |
3. |
Santoro A et al. (2006) Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. |
4. |
Rudd E et al. (2008) Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. |