Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

Dufourcq-Lagelouse, R; Pastural, Élodie; Barrat, Franck J.; Feldmann, Jérôme; Deist, Françoise Le; Fischer, Alain; Basile, Geneviève de Saint

doi:10.3892/ijmm.4.2.127

Cited by 31 publications

(26 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Dykxhoorn, R. Ferrini, J. Lieberman, manuscript submitted). Genetic mutations that affect perforin function or granule exocytosis are associated with profound immunodeficiency and the familial hemophagocytic lymphohistocytosis syndrome (77)(78)(79)(80)(81).…”

Section: Granzyme Release Uptake and Trafficking In Target Cellsmentioning

confidence: 99%

Death by a Thousand Cuts: Granzyme Pathways of Programmed Cell Death

Chowdhury

Lieberman

2008

Annu. Rev. Immunol.

545

580

View full text Add to dashboard Cite

The granzymes are cell death-inducing enzymes, stored in the cytotoxic granules of cytotoxic T lymphocytes and natural killer cells, that are released during granule exocytosis when a specific virus-infected or transformed target cell is marked for elimination. Recent work suggests that this homologous family of serine esterases can activate at least three distinct pathways of cell death. This redundancy likely evolved to provide protection against pathogens and tumors with diverse strategies for evading cell death. This review discusses what is known about granzyme-mediated pathways of cell death as well as recent studies that implicate granzymes in immune regulation and extracellular proteolytic functions in inflammation.

show abstract

Section: Granzyme Release Uptake and Trafficking In Target Cellsmentioning

confidence: 99%

Death by a Thousand Cuts: Granzyme Pathways of Programmed Cell Death

Chowdhury

Lieberman

2008

Annu. Rev. Immunol.

545

580

View full text Add to dashboard Cite

show abstract

“…[1][2][3] Despite aggressive chemotherapeutic interventions, patients with HLH have a high mortality rate as a result of end-organ damage. All of the known mutations associated with HLH are in genes involved in the granule exocytosis pathway (eg, PRF1, SH2D1A, UNC13D, RAB27A, CHS1, and others), implicating the critical role of this pathway in controlling immune responses to infections.…”

Section: Introductionmentioning

confidence: 99%

Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8

Grossman

Radhi

Schauer

et al. 2005

Blood

View full text Add to dashboard Cite

“…[1][2][3][4] The three main categories of histiocytic disorders are (1) dendritic-cell disorders (eg, Langerhans cell histiocytosis, LCH), (2) macrophage disorders (eg, hemophagocytic lymphohistiocytosis, HLH), and (3) the malignant disorders of mononuclear phagocytes (eg, acute monocytic leukemia). 1 Allogeneic bone marrow transplantation (BMT) can be curative for patients with recurrent or refractory histiocytic disorders.…”

Section: Discussionmentioning

confidence: 99%

Allogeneic bone marrow transplantation for children with histiocytic disorders: use of TBI and omission of etoposide in the conditioning regimen

Hale

Bowman

Woodard

et al. 2003

Bone Marrow Transplant

View full text Add to dashboard Cite

Summary:The histiocytoses are rare disorders of antigen-processing phagocytic or antigen-presenting cells. Allogeneic bone marrow transplantation (BMT) can be curative of these disorders. We report a series of five children with Langerhans cell histiocytosis (n ¼ 2) or hemophagocytic lymphohistiocytosis (n ¼ 3), who received allogeneic BMT with a total body irradiation (TBI)-containing regimen (TBI, cytarabine, and cyclophosphamide) at our institution between 1995 and 2000. One of these patients received busulfan, cyclophosphamide, and etoposide for the first of two BMTs. All grafts except one (a matched sibling-donor graft) were T-cell-depleted grafts from unrelated donors. All received cyclosporine graft-versushost disease (GvHD) prophylaxis; the recipient of the matched sibling graft also received methotrexate. Three patients engrafted at a median of 24 days after transplantation. The patient who did not receive TBI experienced primary graft failure and recurrent disease. After the TBI-containing conditioning regimen was given, a second transplant engrafted on day +17. One patient with concurrent myelodysplastic syndrome died of toxicity on day +33 without evidence of engraftment. No acute or chronic GvHD was observed. Four patients survive disease-free, a median of 63 months after transplantation, all with Lansky performance scores of 100. We conclude that a conditioning regimen containing TBI but not etoposide is effective in allogeneic BMT for children with histiocytic diseases. Bone Marrow Transplantation (2003) 31, 981-986.

show abstract

Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).

Cited by 31 publications

References 0 publications

Death by a Thousand Cuts: Granzyme Pathways of Programmed Cell Death

Death by a Thousand Cuts: Granzyme Pathways of Programmed Cell Death

Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8

Allogeneic bone marrow transplantation for children with histiocytic disorders: use of TBI and omission of etoposide in the conditioning regimen

Contact Info

Product

Resources

About