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

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Immunological Reviews

• Publication date

  2005-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.0105-2896.2005.00224.xPMID 15661029
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Macrophage activation syndrome.

  2006cited by this paper
• An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder.

  2004influential reference
• Chronic active Epstein-Barr virus infection associated with mutations in perforin that impair its maturation.

  2004cited by this paper
• Munc13-4 Is a GTP-Rab27-binding Protein Regulating Dense Core Granule Secretion in Platelets*

  2004cited by this paper
• Molecular Dissection of 2B4 Signaling: Implications for Signal Transduction by SLAM-Related Receptors

  2004cited by this paper
• Viral infection results in massive CD8+ T cell expansion and mortality in vaccinated perforin-deficient mice.

  2003influential reference
• Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).

  2003influential reference
• Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).

  2003cited by this paper
• Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.

  2003cited by this paper
• Characteristic perforin gene mutations of haemophagocytic lymphohistiocytosis patients in Japan

  2003cited by this paper
• Molecular and immunological basis of X‐linked lymphoproliferative disease

  2003cited by this paper
• Myosin V and the endoplasmic reticulum

  2003cited by this paper
• Lytic versus stimulatory synapse in cytotoxic T lymphocyte/target cell interaction: Manifestation of a dual activation threshold

  2003cited by this paper
• DNA Methylation and Chromatin Structure Regulate T Cell Perforin Gene Expression1

  2003cited by this paper
• Distinct Rab Binding Specificity of Rim1, Rim2, Rabphilin, and Noc2

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

  2002cited by this paper
• A view to a kill: signals triggering cytotoxicity.

  2002cited by this paper
• Total arrest of spontaneous and evoked synaptic transmission but normal synaptogenesis in the absence of Munc13-mediated vesicle priming

  2002cited by this paper
• Hemophagocytic Lymphohistiocytosis (HLH) is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer cell induced apoptosis

  2002cited by this paper
• Differential control of vesicle priming and short-term plasticity by Munc13 isoforms.

  2002cited by this paper
• Melanophilin, the Product of the Leaden Locus, is Required for Targeting of Myosin‐Va to Melanosomes

  2002cited by this paper
• MyRIP, a novel Rab effector, enables myosin VIIa recruitment to retinal melanosomes

  2002cited by this paper
• Sequence analysis of the granulysin and granzyme B genes in familial hemophagocytic lymphohistiocytosis

  2002cited by this paper
• The Slp Homology Domain of Synaptotagmin-like Proteins 1–4 and Slac2 Functions as a Novel Rab27A Binding Domain*

  2002cited by this paper
• Functional redundancy of Rab27 proteins and the pathogenesis of Griscelli syndrome.

  2002cited by this paper
• Macrophage activation syndrome.

  2002cited by this paper
• The ETS protein MEF plays a critical role in perforin gene expression and the development of natural killer and NK-T cells.

  2002cited by this paper
• Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome.

  2002cited by this paper
• Identification of an organelle receptor for myosin-Va

  2002cited by this paper
• The human perforin gene is a direct target of STAT4 activated by IL-12 in NK cells.

  2002cited by this paper
• Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis

  2002influential reference
• The Chediak-Higashi Protein Interacts with SNARE Complex and Signal Transduction Proteins

  2002cited by this paper
• Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis.

  2002cited by this paper
• Programmed contraction of CD8+ T cells after infection

  2002cited by this paper
• Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan

  2002cited by this paper
• A View to a Kill : Signals Triggering Cytotoxicity 1

  2002cited by this paper
• Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.

  2001cited by this paper
• 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 Oxide1

  2001cited by this paper
• Rab27a Is Required for Regulated Secretion in Cytotoxic T Lymphocytes

  2001cited by this paper
• An open form of syntaxin bypasses the requirement for UNC-13 in vesicle priming

  2001cited by this paper
• The melanosome: membrane dynamics in black and white

  2001cited by this paper
• Defective Granule Exocytosis in Rab27a-Deficient Lymphocytes from Ashen Mice

  2001cited by this paper
• Novel splicing isoforms of synaptotagmin-like proteins 2 and 3: identification of the Slp homology domain.

  2001cited by this paper
• Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis.

  2001influential reference
• Rab27a enables myosin Va-dependent melanosome capture by recruiting the myosin to the organelle.

  2001cited by this paper
• Ig-Like Transcript 2 (ILT2)/Leukocyte Ig-Like Receptor 1 (LIR1) Inhibits TCR Signaling and Actin Cytoskeleton Reorganization1

  2001cited by this paper
• Mutations in Mlph, encoding a member of the Rab effector family, cause the melanosome transport defects observed in leaden mice

  2001influential reference
• Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming.

  2001cited by this paper
• Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies

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

  2001cited by this paper
• The immunological synapse of CTL contains a secretory domain and membrane bridges.

  2001cited by this paper
• Rab27a: A key to melanosome transport in human melanocytes.

  2001cited by this paper
• Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis.

  2001cited by this paper
• Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

  2000cited by this paper
• Cutting Edge: Functional Requirement for SAP in 2B4-Mediated Activation of Human Natural Killer Cells as Revealed by the X-Linked Lymphoproliferative Syndrome1

  2000cited by this paper
• Regulation of transmitter release by Unc-13 and its homologues.

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

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• Immune inhibitory receptors.

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• Localization dose and time of antigens determine immune reactivity.

  2000cited by this paper
• Definition of Munc13-homology-domains and characterization of a novel ubiquitously expressed Munc13 isoform.

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• 2B4-mediated activation of human natural killer cells.

  2000cited by this paper
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• Inhibition of natural killer cell-mediated cytotoxicity by Kaposi's sarcoma-associated herpesvirus K5 protein.

  2000cited by this paper
• Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

  2000cited by this paper
• A mutation in Rab27a causes the vesicle transport defects observed in ashen mice.

  2000cited by this paper
• Regulation of antigen-specific CD8+ T cell homeostasis by perforin and interferon-gamma.

  2000cited by this paper
• Inhibition of Intracellular Transport of B Cell Antigen Receptor Complexes by Kaposi's Sarcoma–Associated Herpesvirus K1

  2000cited by this paper
• X-Linked Lymphoproliferative Disease

  2000cited by this paper
• T Cells Can Use Either T Cell Receptor or Cd28 Receptors to Absorb and Internalize Cell Surface Molecules Derived from Antigen-Presenting Cells

  2000cited by this paper
• Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

  2000influential reference
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  1999cited by this paper
• A Role for Perforin in Downregulating T-Cell Responses during Chronic Viral Infection

  1999cited by this paper
• Homeostatic regulation of CD8+ T cells by perforin

  1999cited by this paper
• Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles

  1999cited by this paper
• Cloning, mapping and characterization of the human RAB27A gene.

  1999cited by this paper
• Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.

  1999cited by this paper
• Antigen presentation by MHC class I and its regulation by interferon gamma.

  1999cited by this paper
• Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

  1999cited by this paper
• Perforin gene defects in familial hemophagocytic lymphohistiocytosis.

  1999cited by this paper
• Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3-22 by homozygosity mapping.

  1999cited by this paper
• Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.

  1999influential reference
• Aplastic Anemia Rescued by Exhaustion of Cytokine-secreting CD8+ T Cells in Persistent Infection with Lymphocytic Choriomeningitis Virus

  1998cited by this paper
• Human myosin V gene produces different transcripts in a cell type-specific manner.

  1998cited by this paper
• Munc13-1 is a presynaptic phorbol ester receptor that enhances neurotransmitter release.

  1998cited by this paper
• Deficient Peptide Loading and MHC Class II Endosomal Sorting in a Human Genetic Immunodeficiency Disease: the Chediak-Higashi Syndrome

  1998cited by this paper
• How do cytotoxic lymphocytes kill their targets?

  1998cited by this paper
• Cloning of a novel gene in the human kidney homologous to rat munc13s: its potential role in diabetic nephropathy.

  1998cited by this paper
• Perforin is activated by a proteolytic cleavage during biosynthesis which reveals a phospholipid‐binding C2 domain

  1997cited by this paper
• Frequency and severity of central nervous system lesions in hemophagocytic lymphohistiocytosis.

  1997influential reference
• Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.

  1997cited by this paper
• Identification of the homologous beige and Chediak–Higashi syndrome genes

  1997cited by this paper
• The Beige/Chediak-Higashi Syndrome Gene Encodes a Widely Expressed Cytosolic Protein*

  1997cited by this paper
• Direct Interaction of the Rat unc-13 Homologue Munc13-1 with the N Terminus of Syntaxin*

  1997cited by this paper
• Griscelli disease maps to chromosome 15q21 and is associated with mutations in the Myosin-Va gene

  1997cited by this paper
• Characteristic Immune Abnormalities in Hemophagocytic Lymphohistiocytosis

  1996cited by this paper
• Identification and mutation analysis of the complete gene for Chediak–Higashi syndrome

  1996cited by this paper
• Identification of the homologous beige and Chediak–Higashi syndrome genes

  1996cited by this paper
• Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a secretory defect that prevents lytic granule exocytosis.

  1995cited by this paper
• Mammalian Homologues of Caenorhabditis elegans unc-13 Gene Define Novel Family of C2-domain Proteins (*)

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• Expansion and Precise CRISPR-Cas9 Gene Repair of Autologous T-Memory Stem Cells from Patients with T-Cell Immunodeficiencies

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• Genetics of Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.

  2024cites this paper
• Precise CRISPR-Cas9 gene repair in autologous memory T cells to treat familial hemophagocytic lymphohistiocytosis

  2024influential citation
• Severe adult haemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants.

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• Genetic diseases predisposing to HLH

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• Adult-Onset Still’s Disease Complicated with Haemophagocytic Lymphohistiocytosis (HLH): A Case Report

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• A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis

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• Late‐onset hemophagocytic lymphohistiocytosis with neurological presentation

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• Similar but not the same: Differential diagnosis of HLH and sepsis.

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• Genotypeephenotype study of familial haemophagocytic lymphohistiocytosis type 3

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• Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations

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• Lysosome‐Related Organelles: Modifications of the Lysosome Paradigm

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• Whole‐Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis

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• Secondary hemophagocytic lymphohistiocytosis possibly induced by interferon beta-1a therapy.

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• in Mouse CD8+ CTL Polarization Receptor-Induced Lytic Granule Regulates Antigen δ

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• Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.

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• Graded Defects in Cytotoxicity Determine Severity of Hemophagocytic Lymphohistiocytosis in Humans and Mice

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• Primary immunodeficiencies predisposed to Epstein‐Barr virus‐driven haematological diseases

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• The control of CD8+ T cell responses is preserved in perforin‐deficient mice and released by depletion of CD4+CD25+ regulatory T cells

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• Hemophagocytic Lymphohistiocytosis An Update on Diagnosis and Pathogenesis

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• syndrome type II Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak

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• Atypical clinical presentation of primary hemophagocytic lymphohistiocytosis with a novel perforin1 gene mutation

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• Familial haemophagocytic lymphohistiocytosis

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• Hemophagocytic Lymphohistiocytosis, Familial

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• Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome.

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