Mutations in the perforin gene have been described in some patients with hemophagocytic
lymphohistiocytosis (HLH), but the role of perforin defects in the pathogenesis of HLH …

The perforin gene was analysed in 15 Japanese patients with primary haemophagocytic
lymphohistiocytosis (HLH). Perforin gene defects were found in two out of eight patients with …

Familial haemophagocytic lymphohistiocytosis (FHL), an inherited form of haemophagocytic
lymphohistiocytosis (HLH) syndrome, is characterized by the overwhelming activation of T …

Perforin mutations have been demonstrated in a proportion of patients diagnosed with the
familial form of hemophagocytic lymphohistiocytosis (HLH). In the present study, we …

Mutations in the perforin gene have been found in patients with hemophagocytic
lymphohistiocytosis (HLH), a rare autosomal recessive disease. We describe a patient …

Perforin gene (PRF1) mutations appear to occur in about 30% of patients with
haemophagocytic lymphohistiocytosis (HLH). We tested perforin expression and gene …

Missense mutations in perforin, a critical effector of lymphocyte cytotoxicity, lead to a
spectrum of diseases, from familial hemophagocytic lymphohistiocytosis to an increased risk …

Familial hemophagocytic lymphohistiocytosis (FHL) is an autosomal recessive disease of
early childhood characterized by nonmalignant accumulation and multivisceral infiltration of …

About 30% of cases of the autosomal recessive immunodeficiency disorder hemophagocytic
lymphohistiocytosis are believed to be caused by inactivating mutations of the perforin gene …

Up to 60% of cases of the autosomal recessive immunodeficiency hemophagocytic
lymphohistiocytosis (HLH) are associated with mutations in the perforin (PRF1) gene. In this …