Inherited defects causing hemophagocytic lymphohistiocytic syndrome (Q57965153)

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20 January 2020

title

Inherited defects causing hemophagocytic lymphohistiocytic syndrome (English)

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Geneviève de Saint Basile

20 January 2020

author

1

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20 January 2020

Gael Ménasche

2

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20 January 2020

Sylvain Latour

3

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Geneviève de Saint Basile

20 January 2020

1

object named as

Geneviève de Saint Basile

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author name string

Gaël Ménasché

2

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language of work or name

English

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publication date

1 December 2011

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Annals of the New York Academy of Sciences

20 January 2020

published in

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20 January 2020

volume

1246

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issue

1

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page(s)

64-76

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Familial hemophagocytic lymphohistiocytosis. Primary hemophagocytic lymphohistiocytosis

20 January 2020

cites work

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Familial haemophagocytic reticulosis

21 January 2018

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Perforin-mediated target-cell death and immune homeostasis

21 January 2018

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Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis

21 January 2018

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Hemophagocytic lymphohistiocytosis with Munc13-4 mutation: a cause of recurrent fatal hydrops fetalis

21 January 2018

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

21 January 2018

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

21 January 2018

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Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

21 January 2018

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Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

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

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

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

1 reference

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

21 January 2018

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Regulation of transmitter release by Unc-13 and its homologues

21 January 2018

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

21 January 2018

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Syntaxin 11 is an atypical SNARE abundant in the immune system

21 January 2018

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SNAREs--engines for membrane fusion

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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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

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

21 January 2018

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

21 January 2018

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Vesicle trafficking: pleasure and pain from SM genes.

21 January 2018

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Membrane fusion: grappling with SNARE and SM proteins

21 January 2018

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Synaptic assembly of the brain in the absence of neurotransmitter secretion

21 January 2018

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

21 January 2018

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

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Rab27a is required for regulated secretion in cytotoxic T lymphocytes

21 January 2018

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

21 January 2018

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Identification of an organelle receptor for myosin-Va

21 January 2018

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

21 January 2018

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Linking albinism and immunity: the secrets of secretory lysosomes

21 January 2018

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

21 January 2018

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

21 January 2018

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Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

21 January 2018

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

21 January 2018

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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

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X-linked lymphoproliferative disease: twenty-five years after the discovery

21 January 2018

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X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective

21 January 2018

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21 January 2018

1 reference

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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/10.1111/J.1749-6632.2011.06307.X

SLAM receptors and SAP influence lymphocyte interactions, development and function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

Importance and mechanism of 'switch' function of SAP family adapters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product

21 January 2018

1 reference

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Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells

21 January 2018

1 reference

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NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.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/J.1749-6632.2011.06307.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease

21 January 2018

1 reference

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Impaired Epstein-Barr virus-specific CD8 T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets

21 January 2018

1 reference

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Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn.

21 January 2018

1 reference

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Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia

21 January 2018

1 reference

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Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product

21 January 2018

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Natural killer T cells and X-linked lymphoproliferative syndrome

21 January 2018

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21 January 2018

The biology of NKT cells

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Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family

21 January 2018

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Interaction with XIAP prevents full caspase-3/-7 activation in proliferating human T lymphocytes.

21 January 2018

1 reference

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IAPs: more than just inhibitors of apoptosis proteins

21 January 2018

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XIAP mediates NOD signaling via interaction with RIP2

21 January 2018

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https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

Characterization of XIAP-deficient mice

21 January 2018

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XIAP-deficiency leads to delayed lobuloalveolar development in the mammary gland.

21 January 2018

1 reference

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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

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.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/J.1749-6632.2011.06307.X

Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma

21 January 2018

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https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

Perforin-mediated suppression of B-cell lymphoma

21 January 2018

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https://api.crossref.org/works/10.1111/J.1749-6632.2011.06307.X

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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10.1111/J.1749-6632.2011.06307.X

21 January 2018

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22236431 AND SRC:MED&resulttype=core&format=json

20 January 2020

1 reference