(Q37944552)

25 August 2017

title

Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity (English)

1 reference

familial hemophagocytic lymphohistiocytosis

25 August 2017

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author

Gillian Griffiths

6

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25 August 2017

Elena Sieni

1

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Valentina Cetica

object named as

Valentina Cetica

2

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Daniela Pende

4

object named as

Daniela Pende

1 reference

25 August 2017

Elena Mastrodicasa

3

1 reference

25 August 2017

Lorenzo Moretta

5

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25 August 2017

Maurizio Aricò

7

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25 August 2017

publication date

12 October 2011

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Cellular and Molecular Life Sciences

25 August 2017

published in

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25 August 2017

volume

69

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25 August 2017

issue

1

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25 August 2017

page(s)

29-40

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The synapse and cytolytic machinery of cytotoxic T cells

25 August 2017

cites work

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Effectiveness of donor natural killer cell alloreactivity in mismatched hematopoietic transplants

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Killer Ig-like receptor-mediated control of natural killer cell alloreactivity in haploidentical hematopoietic stem cell transplantation

21 January 2018

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Delivering the kiss of death

21 January 2018

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Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules

21 January 2018

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Perforin-mediated target-cell death and immune homeostasis

21 January 2018

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Functional significance of the perforin/granzyme cell death pathway

21 January 2018

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Natural cytotoxicity impairment in familial haemophagocytic lymphohistiocytosis

21 January 2018

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Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences

21 January 2018

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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

21 January 2018

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Familial haemophagocytic reticulosis

21 January 2018

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Molecular basis of familial hemophagocytic lymphohistiocytosis

21 January 2018

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

21 January 2018

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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

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Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

21 January 2018

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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/10.1007%2FS00018-011-0835-Y

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Mutations of syntaxin 11 and SNAP23 genes as causes of familial hemophagocytic lymphohistiocytosis were not found in Japanese people

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

A syndrome associating partial albinism and immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

21 January 2018

Chediak-Higashi syndrome

2 references

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

21 January 2018

12 December 2020

Identification of the homologous beige and Chediak-Higashi syndrome genes

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

The emerging shape of the ESCRT machinery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

CTL secretory lysosomes: biogenesis and secretion of a harmful organelle

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

Analysis of RAB27A gene in griscelli syndrome type 2: novel mutations including a deletion hotspot.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Griscelli syndrome: a model system to study vesicular trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

How do SAP family deficiencies compromise immunity?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

SLAM family receptors and SAP adaptors in immunity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Pathogenesis of haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

XIAP: cell death regulation meets copper homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Natural killer T cells and X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Phenotypic differences between mice deficient in XIAP and SAP, two factors targeted in X-linked lymphoproliferative syndrome (XLP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

X-linked lymphoproliferative syndromes: brothers or distant cousins?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

A spectrum of neuroradiological findings in children with haemophagocytic lymphohistiocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Familial hemophagocytic lymphohistiocytosis: clinical and neuroradiological findings and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Hemophagocytic syndrome: A misleading complication of visceral leishmaniasis in children--a series of 12 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

An international consensus survey of diagnostic criteria for macrophage activation syndrome in systemic juvenile idiopathic arthritis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Natural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Cutting Edge: Defective NK Cell Activation in X-Linked Lymphoproliferative Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

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/10.1007%2FS00018-011-0835-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

Cutting Edge: Signaling Lymphocytic Activation Molecule-Associated Protein Controls NKT Cell Functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00018-011-0835-Y

correspondence: A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis

21 January 2018

1 reference

12 December 2020

Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

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

Regulation of NKT cell development by SAP, the protein defective in XLP

1 reference

12 December 2020

Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

1 reference

12 December 2020

Adult onset and atypical presentation of hemophagocytic lymphohistiocytosis in siblings carrying PRF1 mutations

1 reference

12 December 2020

Familial hemophagocytic lymphohistiocytosis

1 reference

12 December 2020

Familial hemophagocytic lymphohistiocytosis: how late can the onset be?

1 reference

12 December 2020

Partial albinism with immunodeficiency (Griscelli syndrome)

1 reference

12 December 2020

Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations

1 reference

12 December 2020

Hemophagocytic lymphohistiocytosis (HLH) and related disorders

1 reference

12 December 2020

Defective NK cell activation in X-linked lymphoproliferative disease

1 reference

12 December 2020

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3

1 reference

12 December 2020

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis

1 reference

12 December 2020

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

1 reference

12 December 2020

[New leukocyte anomaly of constitutional and familial character]

1 reference

12 December 2020

Allogeneic bone marrow transplantation for erythrophagocytic lymphohistiocytosis

1 reference

12 December 2020

Impaired natural killer activity in lymphohistiocytosis syndrome

1 reference

12 December 2020

Hrs interacts with SNAP-25 and regulates Ca(2+)-dependent exocytosis

1 reference

12 December 2020

Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease.

1 reference

12 December 2020

Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members

1 reference

12 December 2020

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

1 reference

12 December 2020

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America

1 reference

12 December 2020

Rapid LightCycler assay for identification of the perforin codon 374 Trp --> stop mutation in patients and families with hemophagocytic lymphohistiocytosis (HLH)

1 reference

12 December 2020

Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

1 reference

12 December 2020

Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis

1 reference

12 December 2020

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

1 reference

12 December 2020

10.1007/S00018-011-0835-Y

Identifiers

DOI

1 reference

25 August 2017

1 reference