Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis (Q36015036)

11 August 2017

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title

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

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Geneviève de Saint Basile

11 August 2017

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3

Alain Fischer

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series ordinal

4

object named as

Geneviève de Saint Basile

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Gael Ménasche

object named as

Gael Ménasché

series ordinal

1

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Jérôme Feldmann

series ordinal

2

object named as

Jérôme Feldmann

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11 August 2017

1 February 2005

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11 August 2017

Immunological Reviews

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11 August 2017

203

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11 August 2017

165-179

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Localization dose and time of antigens determine immune reactivity

11 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Characteristic immune abnormalities in hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.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/10.1111%2FJ.0105-2896.2005.00224.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Structure and function of human perforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.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/10.1111%2FJ.0105-2896.2005.00224.X

Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

DNA methylation and chromatin structure regulate T cell perforin gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The human perforin gene is a direct target of STAT4 activated by IL-12 in NK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Granzymes A and B are targeted to the lytic granules of lymphocytes by the mannose-6-phosphate receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The immunological synapse of CTL contains a secretory domain and membrane bridges.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Mammalian homologues of Caenorhabditis elegans unc-13 gene define novel family of C2-domain proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Regulation of transmitter release by Unc-13 and its homologues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Munc13-1 is a presynaptic phorbol ester receptor that enhances neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Direct interaction of the rat unc-13 homologue Munc13-1 with the N terminus of syntaxin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

An open form of syntaxin bypasses the requirement for UNC-13 in vesicle priming

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Differential control of vesicle priming and short-term plasticity by Munc13 isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Ig-like transcript 2 (ILT2)/leukocyte Ig-like receptor 1 (LIR1) inhibits TCR signaling and actin cytoskeleton reorganization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Immune inhibitory receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

A syndrome associating partial albinism and immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The role of ARF and Rab GTPases in membrane transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Cloning, mapping and characterization of the human RAB27A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

A mutation in Rab27a causes the vesicle transport defects observed in ashen mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The Slp homology domain of synaptotagmin-like proteins 1-4 and Slac2 functions as a novel Rab27A binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Novel splicing isoforms of synaptotagmin-like proteins 2 and 3: identification of the Slp homology domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Melanophilin, the product of the leaden locus, is required for targeting of myosin-Va to melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Human myosin V gene produces different transcripts in a cell type-specific manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Myosin V and the endoplasmic reticulum: the connection grows

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The melanosome: membrane dynamics in black and white

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Rab27a: A key to melanosome transport in human melanocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Identification of an organelle receptor for myosin-Va

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Molecular and immunological basis of X-linked lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Molecular dissection of 2B4 signaling: implications for signal transduction by SLAM-related receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

2B4-mediated activation of human natural killer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Functional requirement for SAP in 2B4-mediated activation of human natural killer cells as revealed by the X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Regulation of antigen-specific CD8+ T cell homeostasis by perforin and interferon-gamma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Lytic versus stimulatory synapse in cytotoxic T lymphocyte/target cell interaction: manifestation of a dual activation threshold

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Antigen presentation by MHC class I and its regulation by interferon gamma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

T cells can use either T cell receptor or CD28 receptors to absorb and internalize cell surface molecules derived from antigen-presenting cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Inhibition of intracellular transport of B cell antigen receptor complexes by Kaposi's sarcoma-associated herpesvirus K1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Immobilization of the early secretory pathway by a virus glycoprotein that binds to microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Tumor-infiltrating macrophages induce apoptosis in activated CD8(+) T cells by a mechanism requiring cell contact and mediated by both the cell-associated form of TNF and nitric oxide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Macrophage activation syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

How do cytotoxic lymphocytes kill their targets?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Secretory Lysosome Biogenesis in Cytotoxic T Lymphocytes from Normal and Chediak Higashi Syndrome Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

Dilute (d) coat colour mutation of DBA/2J mice is associated with the site of integration of an ecotropic MuLV genome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2005.00224.X

10.1111/J.0105-2896.2005.00224.X

21 January 2018

Identifiers

DOI

1 reference

11 August 2017

1 reference

PubMed ID

15661029