Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients (Q24684113)

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Josefine Edner

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Daoxin Ma

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Stephanie M Wood

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Anne Grete Bechensteen

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Tiraje Celkan

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Roula A Farah

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Jacek Winiarski

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Paul A Roche

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Eric O Long

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Hans-Gustaf Ljunggren

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

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language of work or name

English

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publication date

15 September 2007

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published in

Blood

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volume

110

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issue

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page(s)

1906-15

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cites work

1 reference

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Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

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Seven novel mammalian SNARE proteins localize to distinct membrane compartments

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Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease

7 April 2017

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Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

7 April 2017

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Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

7 April 2017

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Familial haemophagocytic reticulosis

7 April 2017

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Syntaxin 11 is associated with SNAP-23 on late endosomes and the trans-Golgi network

7 April 2017

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Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis

7 April 2017

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7 April 2017

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SNAREs--engines for membrane fusion

7 April 2017

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

7 April 2017

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Perforin-mediated target-cell death and immune homeostasis

7 April 2017

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28 September 2017

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Hemophagocytic lymphohistiocytosis and related disorders

28 September 2017

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Human natural killer cell deficiencies

28 September 2017

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HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

28 September 2017

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Human NK cell education by inhibitory receptors for MHC class I.

28 September 2017

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Genetic disorders of programmed cell death in the immune system

28 September 2017

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A novel primary immunodeficiency with specific natural-killer cell deficiency maps to the centromeric region of chromosome 8.

28 September 2017

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NK-DC interaction: on the usefulness of auto-aggression

28 September 2017

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Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells.

28 September 2017

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Hemophagocytic lymphohistiocytosis

28 September 2017

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Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8.

28 September 2017

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A subset of natural killer cells achieves self-tolerance without expressing inhibitory receptors specific for self-MHC molecules

28 September 2017

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Close encounters of different kinds: dendritic cells and NK cells take centre stage

28 September 2017

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Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis

28 September 2017

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CTL secretory lysosomes: biogenesis and secretion of a harmful organelle

28 September 2017

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An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder

28 September 2017

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The human model: a genetic dissection of immunity to infection in natural conditions

28 September 2017

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Cytotoxic granule-mediated apoptosis: unraveling the complex mechanism

28 September 2017

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The ABCs of granule-mediated cytotoxicity: new weapons in the arsenal

28 September 2017

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Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

28 September 2017

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Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation

28 September 2017

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Biology and treatment of familial hemophagocytic lymphohistiocytosis: importance of perforin in lymphocyte-mediated cytotoxicity and triggering of apoptosis

28 September 2017

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Lymphocyte-mediated cytotoxicity.

28 September 2017

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Syntaxin 11 is an atypical SNARE abundant in the immune system

28 September 2017

1 reference

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Targeting of human dendritic cells by autologous NK cells.

28 September 2017

1 reference

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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

28 September 2017

1 reference

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Oversecretion of IL-18 in haemophagocytic lymphohistiocytosis: a novel marker of disease activity

28 September 2017

1 reference

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Identification of the homologous beige and Chediak-Higashi syndrome genes

28 September 2017

1 reference

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Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society.

28 September 2017

1 reference

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Hypercytokinemia in familial hemophagocytic lymphohistiocytosis

28 September 2017

1 reference

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Response of resting human peripheral blood natural killer cells to interleukin 2.

28 September 2017

1 reference

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The descent of memory T-cell subsets.

30 May 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Licensing of natural killer cells by host major histocompatibility complex class I molecules

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance

28 November 2018

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Fatal varicella associated with selective natural killer cell deficiency

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Expression of a killer cell receptor-like gene in plastic regions of the central nervous system

28 November 2018

1 reference

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Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1976360

Severe herpesvirus infections in an adolescent without natural killer cells

28 November 2018

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28 November 2018

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12 December 2020

Impaired natural killer activity in lymphohistiocytosis syndrome

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12 December 2020

Familial hemophagocytic lymphohistiocytosis and viral infections

1 reference

12 December 2020

Perforin and Granzymes Have Distinct Roles in Defensive Immunity and Immunopathology

1 reference

12 December 2020

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions

1 reference

12 December 2020

Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation

1 reference

12 December 2020

Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis

1 reference

12 December 2020

10.1182/BLOOD-2007-02-074468

Identifiers

DOI

1 reference

1 reference

1 reference

PubMed publication ID

17525286

1 reference