Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis
Data up to Jan 2025
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
Cited By (0)
No citing papers found in database