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Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

Data up to Jan 2025

Published2002
Citations145
References35

Total Citations Per Year

Abstract

References (35)

Cytotoxicity mediated by T cells and natural killer cells is greatly impaired in perforin-deficient mice

1994 • 1,772 citations

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

Familial hemophagocytic lymphohistiocytosis

1983 • 567 citations

Familial Haemophagocytic Reticulosis

1952 • 539 citations

Hypercytokinemia in familial hemophagocytic lymphohistiocytosis

1991 • 498 citations

Incidence in Sweden and Clinical Features of Familial Hemophagocytic Lymphohistiocytosis

1991 • 432 citations

Mannose 6-Phosphate/Insulin-like Growth Factor II Receptor Is a Death Receptor for Granzyme B during Cytotoxic T Cell–Induced Apoptosis

2000 • 393 citations

Structure and function of human perforin

1988 • 346 citations

FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

1998 • 281 citations

Spectrum of Perforin Gene Mutations in Familial Hemophagocytic Lymphohistiocytosis

2001 • 253 citations

Frequency and Severity of Central Nervous System Lesions in Hemophagocytic Lymphohistiocytosis

1997 • 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

Neuropathologic findings and neurologic symptoms in twenty-three children with hemophagocytic lymphohistiocytosis

1997 • 201 citations

Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid-binding C2 domain

1997 • 195 citations

Hemophagocytic lymphohistiocytosis: a hemophagocytic syndrome.

1992 • 188 citations

Treatment of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins, steroids, and cyclosporin A

1993 • 165 citations

Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis

1986 • 164 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

Aplastic Anemia Rescued by Exhaustion of Cytokine-secreting CD8+ T Cells in Persistent Infection with Lymphocytic Choriomeningitis Virus

1998 • 142 citations

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

1998 • 137 citations

Treatment of four patients with erythrophagocytic lymphohistiocytosis by a combination of epipodophyllotoxin, steroids, intrathecal methotrexate, and cranial irradiation.

1985 • 131 citations

Age-Related Decline of Perforin Expression in Human Cytotoxic T Lymphocytes and Natural Killer Cells

1998 • 129 citations

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

1997 • 122 citations

Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: a single-center study of 22 cases

1991 • 120 citations

Treatment of hemophagocytic lymphohistiocytosis with chemotherapy and bone marrow transplantation: a single-center study of 22 cases

1991 • 103 citations

Theiler’s Virus Infection of Perforin-Deficient Mice

1998 • 88 citations

[Familial hemophagocytic reticulosis].

1974 • 60 citations

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

1999 • 57 citations

Anti‐viral strategies of cytotoxic T lymphocytes are manifested through a variety of granule‐bound pathways of apoptosis induction

1999 • 40 citations

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

2000 • 25 citations

Familial erythrophagocytic lymphohistiocytosis: Late relapse despite continuous high‐dose VP‐16 chemotherapy

1990 • 16 citations

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Functional consequences of perforin gene mutations in 22 patients with familial… (2002) – British Journal of Haematology | Metascience Observatory Explorer