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

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 …

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 …

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

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

Perforin is critical for cytotoxicity mediated by granules present in natural killer (NK) cells and
cytotoxic T lymphocytes (CTLs). Perforin‐deficient mice have impaired cytotoxicity by NK …

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

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

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

Familial hemophagocytic lymphohistiocytosis (FHL) is, without treatment, an invariably fatal
disease of infancy and early childhood characterized by fever, hepatosplenomegaly …