Familiäre hämophygozytische Lymphohistiozytose 2

Stepp SE et al. (1999) Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

Göransdotter Ericson K et al. (2001) Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

Clementi R et al. (2002) Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations.

Molleran Lee S et al. (2004) Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis.

Trizzino A et al. (2008) Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Chiapparini L et al. (2011) Hemophagocytic lymphohistiocytosis with neurological presentation: MRI findings and a nearly miss diagnosis.

Dufourcq-Lagelouse R et al. (1999) Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

Aricò M et al. (2002) Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression.

Lipton JM et al. (2004) Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2004. Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly.