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 …

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 …

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

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

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

Mutations in the perforin gene cause familial hemophagocytic lymphohistiocytosis (FHL).
The first symptoms of FHL are usually intractable fever, hepatosplenomegaly, and …

Perforin: more than just an effector molecule: Immunology Today Skip to Main Content
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Perforin-mediated lymphocyte cytotoxicity is critical for pathogen elimination and immune
homeostasis. Perforin disruption of target cell membranes is hypothesized to require binding …

Recent progress has been made in discovering structure/function relationships of the
cytotoxic lymphocyte pore-forming protein—perforin—and its role in immune regulation …