(Q37763991)

22 August 2017

1 reference

title

Inherited defects in lymphocyte cytotoxic activity (English)

1 reference

Geneviève de Saint Basile

22 August 2017

0 references

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7

Alain Fischer

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8

Geneviève de Saint Basile

0 references

Gael Ménasche

6

Gaël Ménasché

0 references

Jana Pachlopnik Schmid

1

Jana Pachlopnik Schmid

0 references

Marjorie Côte

2

Marjorie Côte

1 reference

22 August 2017

3

Mickaël M Ménager

1 reference

22 August 2017

4

Agathe Burgess

1 reference

22 August 2017

5

Nadine Nehme

1 reference

22 August 2017

author name string

Jana Pachlopnik Schmid

1

1 reference

22 August 2017

publication date

1 May 2010

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22 August 2017

published in

Immunological Reviews

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22 August 2017

volume

235

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22 August 2017

issue

1

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22 August 2017

page(s)

10-23

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Lymphocyte-mediated cytotoxicity.

22 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

T cell killing does not require the formation of a stable mature immunological synapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Centrosome polarization delivers secretory granules to the immunological synapse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

The strength of T cell receptor signal controls the polarization of cytotoxic machinery to the immunological synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Kinetics of early T cell receptor signaling regulate the pathway of lytic granule delivery to the secretory domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Functional significance of the perforin/granzyme cell death pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin-mediated target-cell death and immune homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Mechanisms of granule-dependent killing

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Granzyme A cleaves a mitochondrial complex I protein to initiate caspase-independent cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

The role of cytotoxicity in lymphocyte homeostasis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Familial haemophagocytic reticulosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 28-2004. Newborn twins with thrombocytopenia, coagulation defects, and hepatosplenomegaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.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.0105-2896.2010.00890.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.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Structure and function of human perforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

Mutational analysis of the Menkes copper P-type ATPase (ATP7A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A common fold mediates vertebrate defense and bacterial attack

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

The functional basis for hemophagocytic lymphohistiocytosis in a patient with co-inherited missense mutations in the perforin (PFN1) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

Regulation of transmitter release by Unc-13 and its homologues

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Syntaxin 11 is an atypical SNARE abundant in the immune system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

SNAREs--engines for membrane fusion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Syntaxin-11 is expressed in primary human monocytes/macrophages and acts as a negative regulator of macrophage engulfment of apoptotic cells and IgG-opsonized target cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Cutting edge: syntaxin 11 regulates lymphocyte-mediated secretion and cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Vesicle trafficking: pleasure and pain from SM genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Membrane fusion: grappling with SNARE and SM proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Synaptic assembly of the brain in the absence of neurotransmitter secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Munc18-1 in secretion: lonely Munc joins SNARE team and takes control.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Slp1 and Slp2-a localize to the plasma membrane of CTL and contribute to secretion from the immunological synapse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Identification of an organelle receptor for myosin-Va

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Crystal structure of the PH-BEACH domains of human LRBA/BGL.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Mechanisms of membrane fusion: disparate players and common principles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

The emerging shape of the ESCRT machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Molecular defects that affect platelet dense granules

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

AP-3: an adaptor-like protein complex with ubiquitous expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Beta3A-adaptin, a subunit of the adaptor-like complex AP-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A di-leucine-based motif in the cytoplasmic tail of LIMP-II and tyrosinase mediates selective binding of AP-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

The SAP family of adaptors in immune regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.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.0105-2896.2010.00890.X

Jinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Severe imbalance of IL-18/IL-18BP in patients with secondary hemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

TCR-Mediated internalization of peptide-MHC complexes acquired by T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Cutting edge: CTLs rapidly capture membrane fragments from target cells in a TCR signaling-dependent manner

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Human T regulatory cells can use the perforin pathway to cause autologous target cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

CD4(-)CD8alphaalpha subset of CD1d-restricted NKT cells controls T cell expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Immunotherapy of Familial Hemophagocytic Lymphohistiocytosis With Antithymocyte Globulins: A Single-Center Retrospective Report of 38 Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Cell-death signaling and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Genetic disorders of programmed cell death in the immune system

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin-mediated suppression of B-cell lymphoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

Perforin polymorphism A91V and susceptibility to B-precursor childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.0105-2896.2010.00890.X

10.1111/J.0105-2896.2010.00890.X

21 January 2018

Identifiers

DOI

1 reference

22 August 2017

1 reference