Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis

Perforin Gene Defects in Familial Hemophagocytic Lymphohistiocytosis

1999 • 1,212 citations

Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society.

1991 • 767 citations

Activation of the apoptotic protease CPP32 by cytotoxic T-cell-derived granzyme B

1995 • 720 citations

Familial hemophagocytic lymphohistiocytosis

1983 • 567 citations

HLH-94: A treatment protocol for hemophagocytic lymphohistiocytosis

1997 • 504 citations

Hypercytokinemia in familial hemophagocytic lymphohistiocytosis

1991 • 498 citations

Human Fas ligand: gene structure, chromosomal location and species specificity

1994 • 435 citations

Perforin: structure and function

1995 • 361 citations

Structure and function of human perforin

1988 • 346 citations

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

1998 • 281 citations

Perforin-Mediated Target Cell Lysis by Cytolytic T Lymphocytes

1990 • 268 citations

Hypercytokinemia in Hemophagocytic Syndrome

1993 • 242 citations

A Role for Perforin in Downregulating T-Cell Responses during Chronic Viral Infection

1999 • 227 citations

Localization of a Gene for Familial Hemophagocytic Lymphohistiocytosis at Chromosome 9q21.3-22 by Homozygosity Mapping

1999 • 216 citations

Characteristic Immune Abnormalities in Hemophagocytic Lymphohistiocytosis

1996 • 165 citations

Perforin and Granzymes: Crucial Effector Molecules in Cytolytic T Lymphocyte and Natural Killer Cell-Mediated Cytotoxicity

1995 • 153 citations

Homeostatic regulation of CD8+ T cells by perforin

1999 • 148 citations

Linkage of Familial Hemophagocytic Lymphohistiocytosis to 10q21-22 and Evidence for Heterogeneity

1999 • 146 citations

Defective Natural Killer Cell Function in Patients with Hemophagocytic Lymphohistiocytosis and in First Degree Relatives

1998 • 137 citations

Granule exocytosis, and not the Fas/Fas ligand system, is the main pathway of cytotoxicity mediated by alloantigen-specific CD4+ as well as CD8+ cytotoxic T lymphocytes in humans

2000 • 133 citations

Impaired natural killer activity in lymphohistiocytosis syndrome

1984 • 126 citations

Treatment of Familial Hemophagocytic Lymphohistiocytosis With Bone Marrow Transplantation From HLA Genetically Nonidentical Donors

1997 • 122 citations

Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single‐centre experience of 12 patients

1999 • 90 citations

Elevation of the Serum Fas Ligand in Patients With Hemophagocytic Syndrome and Diamond-Blackfan Anemia

1998 • 87 citations

Natural cytotoxicity impairment in familial haemophagocytic lymphohistiocytosis.

1988 • 83 citations

Structure of the human perforin gene. A simple gene organization with interesting potential regulatory sequences.

1989 • 75 citations

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

1999 • 57 citations

Induction of apoptosis and caspase activation in cells obtained from familial haemophagocytic lymphohistiocytosis patients

1999 • 56 citations

Natural Killer Cell Function and Interferon Production in Familial Hemophagocyticlymphohistiocytosis

1989 • 54 citations

Molecular cloning and chromosomal assignment of a human perforin (PFP) gene

1989 • 51 citations

Granule exocytosis, and not the Fas/Fas ligand system, is the main pathway of cytotoxicity mediated by alloantigen-specific CD4+ as well as CD8+ cytotoxic T lymphocytes in humans

2000 • 43 citations

Perforin: Structure, Function, and Regulation

1992 • 42 citations

Hyper‐interleukin (IL)‐6‐naemia in haemophagocytic lymphohistiocytosis

1996 • 38 citations

Proteases and Cell-Mediated Cytotoxicity

1998 • 27 citations

Further Evidence for Genetic Heterogeneity in Familial Hemophagocytic Lymphohistiocytosis (FHLH)

2000 • 25 citations