Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis (Q56941325)

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9 November 2019

title

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

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9 November 2019

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9 November 2019

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9 November 2019

Jean-Laurent Casanova

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Geneviève de Saint Basile

9 November 2019

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Nico Wulffraat

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Françoise Le Deist

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Stéphane Blanche

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Marie Ouachée-Chardin

object named as

Marie Ouachée-Chardin

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9 November 2019

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author name string

Jérôme Feldmann

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Stéphanie Certain

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9 November 2019

Sarah Alexander

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Alain Fischer

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language of work or name

English

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publication date

1 June 2002

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British Journal of Haematology

9 November 2019

published in

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volume

117

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issue

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page(s)

965-972

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Aplastic anemia rescued by exhaustion of cytokine-secreting CD8+ T cells in persistent infection with lymphocytic choriomeningitis virus

9 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity

21 January 2018

1 reference

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

21 January 2018

1 reference

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Familial haemophagocytic reticulosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Further evidence for genetic heterogeneity in familial hemophagocytic lymphohistiocytosis (FHLH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

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

21 January 2018

1 reference

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Structure and function of human perforin

21 January 2018

1 reference

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Mannose 6-phosphate/insulin-like growth factor II receptor is a death receptor for granzyme B during cytotoxic T cell-induced apoptosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Defective natural killer cell function in patients with hemophagocytic lymphohistiocytosis and in first degree relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

Familial erythrophagocytic lymphohistiocytosis: late relapse despite continuous high-dose VP-16 chemotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2141.2002.03534.X

10.1046/J.1365-2141.2002.03534.X

21 January 2018

Identifiers

DOI

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9 November 2019

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