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。Synergism of TNF-α and IFN-γ Triggers Inflammatory Cell Death, Tissue Damage, and Mortality in SARS-CoV-2 Infection and Cytokine Shock Syndromes
Rajendra Karki et al.
CELL (2021)
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis
Artem Kalinichenko et al.
BLOOD (2021)
The transcription factor Bcl11b promotes both canonical and adaptive NK cell differentiation
Tim D. Holmes et al.
SCIENCE IMMUNOLOGY (2021)
Genetic Deficiency of Interferon-γ Reveals Interferon-γ-Independent Manifestations of Murine Hemophagocytic Lymphohistiocytosis
Thomas N. Burn et al.
ARTHRITIS & RHEUMATOLOGY (2020)
Primary immunodeficiencies reveal the molecular requirements for effective host defense against EBV infection
Stuart G. Tangye et al.
BLOOD (2020)
Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis
F. Locatelli et al.
NEW ENGLAND JOURNAL OF MEDICINE (2020)
Cytotoxic Granule Exocytosis From Human Cytotoxic T Lymphocytes Is Mediated by VAMP7
Praneeth Chitirala et al.
FRONTIERS IN IMMUNOLOGY (2019)
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
Michael T. Lam et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2019)
An actin cytoskeletal barrier inhibits lytic granule release from natural killer cells in patients with Chediak-Higashi syndrome
Aleksandra Gil-Krzewska et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
A RAB27A 5′ untranslated region structural variant associated with late-onset hemophagocytic lympho-histiocytosis and normal pigmentation
Bianca Tesi et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2018)
Novel UNC13D Intronic Variant Disrupting an NF-κB Enhancer in a Patient With Recurrent Macrophage Activation Syndrome and Systemic Juvenile Idiopathic Arthritis
Grant S. Schulert et al.
ARTHRITIS & RHEUMATOLOGY (2018)
A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis
Virginie Grandin et al.
HUMAN MUTATION (2017)
Multifocal Recurrent osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature
Aide Tamara Staines-Boone et al.
FRONTIERS IN PEDIATRICS (2017)
Ruxolitinib for treatment of refractory hemophagocytic lymphohistiocytosis
Larisa Broglie et al.
BLOOD ADVANCES (2017)
Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH
Tamar S. Rubin et al.
BLOOD (2017)
Genomics of Immune Diseases and New Therapies
Michael Lenardo et al.
ANNUAL REVIEW OF IMMUNOLOGY, VOL 34 (2016)
Janus kinase inhibition lessens inflammation and ameliorates disease in murine models of hemophagocytic lymphohistiocytosis
Rupali Das et al.
BLOOD (2016)
Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice
Sophia Maschalidi et al.
BLOOD (2016)
Macrophage activation syndrome in the era of biologic therapy
Alexei A. Grom et al.
NATURE REVIEWS RHEUMATOLOGY (2016)
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
Sebastian F. N. Bode et al.
HAEMATOLOGICA (2015)
Hemophagocytic lymphohistiocytosis in 2 patients with underlying IFN-γ receptor deficiency
Bianca Tesi et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2015)
VAMP8-dependent fusion of recycling endosomes with the plasma membrane facilitates T lymphocyte cytotoxicity
Misty R. Marshall et al.
JOURNAL OF CELL BIOLOGY (2015)
XIAP deficiency syndrome in humans
Sylvain Latour et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2015)
The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis
Sebastian F. N. Bode et al.
HAEMATOLOGICA (2015)
Incidence and Clinical Presentation of Primary Hemophagocytic Lymphohistiocytosis in Sweden
Marie Meeths et al.
PEDIATRIC BLOOD & CANCER (2015)
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency
Frank Cichocki et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2014)
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
Scott W. Canna et al.
NATURE GENETICS (2014)
The 253-kb Inversion and Deep Intronic Mutations in UNC13D are Present in North American Patients With Familial Hemophagocytic Lymphohistiocytosis 3
Yaping Qian et al.
PEDIATRIC BLOOD & CANCER (2014)
Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea
Ja Young Seo et al.
ANNALS OF HEMATOLOGY (2013)
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11
Fernando E. Sepulveda et al.
BLOOD (2013)
Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production
Samuel C. C. Chiang et al.
BLOOD (2013)
Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3
Miriam Entesarian et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation
Despina Moshous et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
Synaptobrevin2 is the v-SNARE required for cytotoxic T-lymphocyte lytic granule fusion
Ulf Matti et al.
NATURE COMMUNICATIONS (2013)
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)
Julia Pagel et al.
BLOOD (2012)
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
Yenan T. Bryceson et al.
BLOOD (2012)
Newborn Screening for Severe Combined Immunodeficiency; The Wisconsin Experience (2008-2011)
James W. Verbsky et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2012)
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
Jana Pachlopnik Schmid et al.
BLOOD (2011)
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease
Claire Booth et al.
BLOOD (2011)
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
Marie Meeths et al.
BLOOD (2011)
The munc13-4-rab27 complex is specifically required for tethering secretory lysosomes at the plasma membrane
Edo D. Elstak et al.
BLOOD (2011)
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
Elena Sieni et al.
JOURNAL OF MEDICAL GENETICS (2011)
Munc13 mediates the transition from the closed syntaxin-Munc18 complex to the SNARE complex
Cong Ma et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2011)
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2
Marie Meeths et al.
BLOOD (2010)
Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
Udo zur Stadt et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
Stephanie M. Wood et al.
BLOOD (2009)
A role for endobrevin/VAMP8 in CTL lytic granule exocytosis
Li Shen Loo et al.
EUROPEAN JOURNAL OF IMMUNOLOGY (2009)
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
Marjorie Cote et al.
JOURNAL OF CLINICAL INVESTIGATION (2009)
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
AnnaCarin Horne et al.
BRITISH JOURNAL OF HAEMATOLOGY (2008)
Defective cytotoxic lymphocyte degranulation in syntaxin-11-deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
Yenan T. Bryceson et al.
BLOOD (2007)
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4
Mickael M. Menager et al.
NATURE IMMUNOLOGY (2007)
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
Jan-Inge Henter et al.
PEDIATRIC BLOOD & CANCER (2007)
Perforin and granzymes have distinct roles in defensive immunity and immunopathology
Serani L. H. van Dommelen et al.
IMMUNITY (2006)
Inborn errors of immunity to infection: the rule rather than the exception
JL Casanova et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2005)
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
U zur Stadt et al.
HUMAN MOLECULAR GENETICS (2005)
Munc13-4 is a GTP-Rab27-binding protein regulating dense core granule secretion in platelets
R Shirakawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
An animal model of hemophagocytic lymphohistiocytosis (HLH):: CD8+ T cells and interferon gamma are essential for the disorder
MB Jordan et al.
BLOOD (2004)
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
J Feldmann et al.
CELL (2003)
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
G Ménasché et al.
NATURE GENETICS (2000)
分享论文
