Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning
出版年份 2014 全文链接
标题
Familial Hemophagocytic Lymphohistiocytosis: When Rare Diseases Shed Light on Immune System Functioning
作者
关键词
-
出版物
Frontiers in Immunology
Volume 5, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2014-04-16
DOI
10.3389/fimmu.2014.00167
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- XLP1 inhibitory effect by 2B4 does not affect DNAM-1 and NKG2D activating pathways in NK cells
- (2014) Raffaella Meazza et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- Autosomal-recessive complicated spastic paraplegia with a novel lysosomal trafficking regulator gene mutation
- (2014) H. Shimazaki et al. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
- An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
- (2014) Martha-Lena Müller et al. Frontiers in Immunology
- An Intermediate Alemtuzumab Schedule Reduces the Incidence of Mixed Chimerism Following Reduced-Intensity Conditioning Hematopoietic Cell Transplantation for Hemophagocytic Lymphohistiocytosis
- (2013) Rebecca A. Marsh et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2
- (2013) B. Jessen et al. BLOOD
- Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations
- (2013) X. W. Zhao et al. BLOOD
- Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice
- (2013) C. E. Terrell et al. BLOOD
- Disruption of AP3B1by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2
- (2013) Matthew L Jones et al. BMC Medical Genetics
- Novel deep intronic and missenseUNC13Dmutations in familial haemophagocytic lymphohistiocytosis type 3
- (2013) Miriam Entesarian et al. BRITISH JOURNAL OF HAEMATOLOGY
- X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis
- (2013) C. Speckmann et al. CLINICAL IMMUNOLOGY
- Human NK cell receptors/markers: A tool to analyze NK cell development, subsets and function
- (2013) Elisa Montaldo et al. CYTOMETRY PART A
- Disease-causing mutations in the XIAPBIR2 domain impair NOD2-dependent immune signalling
- (2013) Rune Busk Damgaard et al. EMBO Molecular Medicine
- T cell regulation of natural killer cells
- (2013) Yann Kerdiles et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Recurrent Macrophage Activation Syndrome Associated With Heterozygous Perforin W374X Gene Mutation in a Child with Systemic Juvenile Idiopathic Arthritis
- (2013) Sule Unal et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Monoallelic Mutations of the Perforin Gene may Represent a Predisposing Factor to Childhood Anaplastic Large Cell Lymphoma
- (2013) Benedetta Ciambotti et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Familial Hemophagocytic Lymphohistiocytosis Type 3 Diagnosed at School Age
- (2013) Emma C. Manno et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism
- (2013) Laura Dotta et al. Orphanet Journal of Rare Diseases
- Frequent mutations inSH2D1A(XLP) in males presenting with high-grade mature B-cell neoplasms
- (2013) J.T. Sandlund et al. PEDIATRIC BLOOD & CANCER
- XIAP Q423P polymorphism and susceptibility to childhood hemophagocytic lymphohistiocytosis
- (2013) Dan-Yan Ou et al. PEDIATRIC BLOOD & CANCER
- Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due toSTXBP2/MUNC18-2mutations
- (2013) Polina Stepensky et al. PEDIATRIC BLOOD & CANCER
- Differential clinical characteristics of acute liver failure caused by hemophagocytic lymphohistiocytosis in children
- (2013) Jeong-Min Ryu et al. PEDIATRICS INTERNATIONAL
- Variations of the UNC13D Gene in Patients with Autoimmune Lymphoproliferative Syndrome
- (2013) Maurizio Aricò et al. PLoS One
- Syntaxin binding mechanism and disease-causing mutations in Munc18-2
- (2013) Y. Hackmann et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients
- (2013) Omer An et al. PROTEIN SCIENCE
- Human perforin mutations and susceptibility to multiple primary cancers
- (2013) Joseph A. Trapani et al. OncoImmunology
- Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11
- (2012) F. E. Sepulveda et al. BLOOD
- Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
- (2012) M. Kurowska et al. BLOOD
- Munc18b/STXBP2 is required for platelet secretion
- (2012) R. Al Hawas et al. BLOOD
- Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes
- (2012) R. A. Marsh et al. BLOOD
- Gene-expression signatures differ between different clinical forms of familial hemophagocytic lymphohistiocytosis
- (2012) J. Sumegi et al. BLOOD
- SAP gene transfer restores cellular and humoral immune function in a murine model of X-linked lymphoproliferative disease
- (2012) C. Rivat et al. BLOOD
- Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
- (2012) J. Pagel et al. BLOOD
- A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
- (2012) Y. T. Bryceson et al. BLOOD
- Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia
- (2012) Mike Recher et al. CLINICAL IMMUNOLOGY
- Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment
- (2012) A Ravelli et al. GENES AND IMMUNITY
- The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function
- (2012) Elena Boggio et al. HUMAN IMMUNOLOGY
- Functional impact of A91V mutation of the PRF1 perforin gene
- (2012) Natalia Martínez-Pomar et al. HUMAN IMMUNOLOGY
- The Adaptor SAP Controls NK Cell Activation by Regulating the Enzymes Vav-1 and SHIP-1 and by Enhancing Conjugates with Target Cells
- (2012) Zhongjun Dong et al. IMMUNITY
- Munc13-4 reconstitutes calcium-dependent SNARE-mediated membrane fusion
- (2012) Kristin L. Boswell et al. JOURNAL OF CELL BIOLOGY
- Analyses of the PRF1 Gene in Individuals with Hemophagocytic Lymphohystiocytosis Reveal the Common Haplotype R54C/A91V in Colombian Unrelated Families Associated with Late Onset Disease
- (2012) Isaura P. Sánchez et al. JOURNAL OF CLINICAL IMMUNOLOGY
- Diagnostic Accuracy of a Specific Cytokine Pattern in Hemophagocytic Lymphohistiocytosis in Children
- (2012) Xiao-Jun Xu et al. JOURNAL OF PEDIATRICS
- Genetic Variation in Cell Death Genes and Risk of Non-Hodgkin Lymphoma
- (2012) Johanna M. Schuetz et al. PLoS One
- Familial Hemophagocytic Lymphohistiocytosis May Present during Adulthood: Clinical and Genetic Features of a Small Series
- (2012) Elena Sieni et al. PLoS One
- Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
- (2011) M. Meeths et al. BLOOD
- The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane
- (2011) E. D. Elstak et al. BLOOD
- Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocol
- (2011) H. Trottestam et al. BLOOD
- Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
- (2011) K. Zhang et al. BLOOD
- Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity
- (2011) Elena Sieni et al. CELLULAR AND MOLECULAR LIFE SCIENCES
- Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
- (2011) E. Sieni et al. JOURNAL OF MEDICAL GENETICS
- Neuroradiologic findings and follow-up with magnetic resonance imaging of the genetic forms of haemophagocytic lymphohistiocytosis with CNS involvement
- (2011) Ines Rego et al. PEDIATRIC BLOOD & CANCER
- A lipid-anchored SNARE supports membrane fusion
- (2011) H. Xu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Innate or Adaptive Immunity? The Example of Natural Killer Cells
- (2011) E. Vivier et al. SCIENCE
- The Crystal Structure of a Munc13 C-terminal Module Exhibits a Remarkable Similarity to Vesicle Tethering Factors
- (2011) Wei Li et al. STRUCTURE
- The Enlarged Lysosomes in beigej Cells Result From Decreased Lysosome Fission and Not Increased Lysosome Fusion
- (2011) Nina Durchfort et al. TRAFFIC
- Molecular Pathogenesis of EBV Susceptibility in XLP as Revealed by Analysis of Female Carriers with Heterozygous Expression of SAP
- (2011) Umaimainthan Palendira et al. PLOS BIOLOGY
- Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
- (2010) M. Meeths et al. BLOOD
- Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
- (2010) K. Sandrock et al. BLOOD
- X-linked lymphoproliferative syndromes: brothers or distant cousins?
- (2010) A. H. Filipovich et al. BLOOD
- Reduced-intensity conditioning significantly improves survival of patients with hemophagocytic lymphohistiocytosis undergoing allogeneic hematopoietic cell transplantation
- (2010) R. A. Marsh et al. BLOOD
- Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets
- (2010) A. D. Hislop et al. BLOOD
- Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
- (2010) J. P. Schmid et al. BLOOD
- XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
- (2010) R. A. Marsh et al. BLOOD
- X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
- (2010) C. Booth et al. BLOOD
- X-linked lymphoproliferative syndrome: a genetic condition typified by the triad of infection, immunodeficiency and lymphoma
- (2010) Nima Rezaei et al. BRITISH JOURNAL OF HAEMATOLOGY
- Macrophage activation syndrome: advances towards understanding pathogenesis
- (2010) Alexei A Grom et al. CURRENT OPINION IN RHEUMATOLOGY
- Molecular basis of familial hemophagocytic lymphohistiocytosis
- (2010) V. Cetica et al. HAEMATOLOGICA
- Munc13-4 Restricts Motility of Rab27a-expressing Vesicles to Facilitate Lipopolysaccharide-induced Priming of Exocytosis in Neutrophils
- (2010) Jennifer L. Johnson et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- The Exocytosis of Lytic Granules Is Impaired in Vti1b- or Vamp8-Deficient CTL Leading to a Reduced Cytotoxic Activity following Antigen-Specific Activation
- (2010) R. Dressel et al. JOURNAL OF IMMUNOLOGY
- STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5
- (2010) V. Cetica et al. JOURNAL OF MEDICAL GENETICS
- STX11mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America
- (2010) Rebecca A. Marsh et al. PEDIATRIC BLOOD & CANCER
- Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes
- (2010) Kozo Nagai et al. PLoS One
- Possible roles for Munc18-1 domain 3a and Syntaxin1 N-peptide and C-terminal anchor in SNARE complex formation
- (2010) S.-H. Hu et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
- (2009) Udo zur Stadt et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The 423Q polymorphism of the X-linked inhibitor of apoptosis gene influences monocyte function and is associated with periodic fever
- (2009) Massimo Ferretti et al. ARTHRITIS AND RHEUMATISM
- Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations
- (2009) Rebecca A. Marsh et al. CLINICAL IMMUNOLOGY
- A role for endobrevin/VAMP8 in CTL lytic granule exocytosis
- (2009) Li Shen Loo et al. EUROPEAN JOURNAL OF IMMUNOLOGY
- UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis
- (2009) H. S. Yoon et al. HAEMATOLOGICA
- Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1
- (2009) M. Wenham et al. HAEMATOLOGICA
- Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency
- (2009) Andrew L. Snow et al. JOURNAL OF CLINICAL INVESTIGATION
- Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
- (2009) Marjorie Côte et al. JOURNAL OF CLINICAL INVESTIGATION
- Remote Homology between Munc13 MUN Domain and Vesicle Tethering Complexes
- (2009) Jimin Pei et al. JOURNAL OF MOLECULAR BIOLOGY
- Clinical presentation of Griscelli syndrome type 2 and spectrum ofRAB27Amutations
- (2009) Marie Meeths et al. PEDIATRIC BLOOD & CANCER
- Identification of an Xiap-Like Pseudogene on Mouse Chromosome 7
- (2009) Aneta Kotevski et al. PLoS One
- Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer
- (2009) J. Chia et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Perforin-mediated suppression of B-cell lymphoma
- (2009) Paul Bolitho et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis
- (2009) Sebastiaan J. Vastert et al. RHEUMATOLOGY
- Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
- (2008) Marjan Huizing et al. Annual Review of Genomics and Human Genetics
- Mutations of the hemophagocytic lymphohistiocytosis–associated geneUNC13D in a patient with systemic juvenile idiopathic arthritis
- (2008) Melissa M. Hazen et al. ARTHRITIS AND RHEUMATISM
- Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms
- (2008) Kejian Zhang et al. ARTHRITIS AND RHEUMATISM
- A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion
- (2008) G. Menasche et al. BLOOD
- Characterization ofPRF1,STX11andUNC13Dgenotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
- (2008) AnnaCarin Horne et al. BRITISH JOURNAL OF HAEMATOLOGY
- Variations of the Perforin Gene in Patients With Type 1 Diabetes
- (2008) E. Orilieri et al. DIABETES
- Variations of the perforin gene in patients with multiple sclerosis
- (2008) G Cappellano et al. GENES AND IMMUNITY
- Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
- (2008) A. Santoro et al. HAEMATOLOGICA
- Munc18a Scaffolds SNARE Assembly to Promote Membrane Fusion
- (2008) Travis L. Rodkey et al. MOLECULAR BIOLOGY OF THE CELL
- Accessory Proteins Stabilize the Acceptor Complex for Synaptobrevin, the 1:1 Syntaxin/SNAP-25 Complex
- (2008) Keith Weninger et al. STRUCTURE
- Slp1 and Slp2-a Localize to the Plasma Membrane of CTL and Contribute to Secretion from the Immunological Synapse
- (2008) Oliver Holt et al. TRAFFIC
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started