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。Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry
Valentina Cetica et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2016)
2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative
Angelo Ravelli et al.
ARTHRITIS & RHEUMATOLOGY (2016)
Pathogenesis of Macrophage Activation Syndrome and Potential for Cytokine-Directed Therapies
Grant S. Schulert et al.
ANNUAL REVIEW OF MEDICINE, VOL 66 (2015)
Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion
Waldo A. Spessott et al.
BLOOD (2015)
Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals
Imran G. House et al.
IMMUNOLOGY AND CELL BIOLOGY (2015)
Report of a Fatal Pediatric Case of Hemophagocytic Lymphohistiocytosis Associated with Pandemic Influenza A (H1N1) Infection in 2009
Biswas Shrestha et al.
PEDIATRICS AND NEONATOLOGY (2015)
11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism
Grant S. Schulert et al.
ARTHRITIS CARE & RESEARCH (2015)
Inhibition of Natural Killer Cell Cytotoxicity by Interleukin-6: Implications for the Pathogenesis of Macrophage Activation Syndrome
Loredana Cifaldi et al.
ARTHRITIS & RHEUMATOLOGY (2015)
Histoplasmosis-Induced Hemophagocytic Syndrome: A Case Series and Review of the Literature
Jennifer Leigh Townsend et al.
OPEN FORUM INFECTIOUS DISEASES (2015)
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis
Kejian Zhang et al.
BLOOD (2014)
Macrophage Activation Syndrome Induced by A/H1N1 Influenza in Cystic Fibrosis
Rosaria Casciaro et al.
PEDIATRIC PULMONOLOGY (2014)
Mutations of familial hemophagocytic lymphohistiocytosis (FHL) related genes and abnormalities of cytotoxicity function tests in patients with macrophage activation syndrome (MAS) occurring in systemic juvenile idiopathic arthritis (sJIA)
Claudia Bracaglia et al.
Pediatric Rheumatology (2014)
Genetic Defects in Cytolysis in Macrophage Activation Syndrome
Mingce Zhang et al.
CURRENT RHEUMATOLOGY REPORTS (2014)
Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis A Multinational, Multicenter Study of 362 Patients
Francesca Minoia et al.
ARTHRITIS & RHEUMATOLOGY (2014)
Whole-Exome Sequencing Reveals Overlap Between Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis and Familial Hemophagocytic Lymphohistiocytosis
Kenneth M. Kaufman et al.
ARTHRITIS & RHEUMATOLOGY (2014)
Performance of Current Guidelines for Diagnosis of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis
Sergio Davi et al.
ARTHRITIS & RHEUMATOLOGY (2014)
Development and Validation of the HScore, a Score for the Diagnosis of Reactive Hemophagocytic Syndrome
Laurence Fardet et al.
ARTHRITIS & RHEUMATOLOGY (2014)
Analysis of Fatal Cases of Pandemic Influenza A (H1N1) Virus Infections in Pediatric Patients with Leukemia
Yaman Yontem et al.
PEDIATRIC HEMATOLOGY AND ONCOLOGY (2013)
Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients
Omer An et al.
PROTEIN SCIENCE (2013)
Perforinopatly: a spectrum of human immune disease caused by defective perforin delivery or function
Ilia Voskoboinik et al.
FRONTIERS IN IMMUNOLOGY (2013)
Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment
A. Ravelli et al.
GENES AND IMMUNITY (2012)
Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis
Sebastian F. N. Bode et al.
ARTHRITIS RESEARCH & THERAPY (2012)
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome
Birthe Jessen et al.
BLOOD (2011)
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH
Kejian Zhang et al.
BLOOD (2011)
Hemophagocytic Lymphohistiocytosis Associated With 2009 Pandemic Influenza A (H1N1) Virus Infection
Halil Ozdemir et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY (2011)
Critically III Children During the 2009-2010 Influenza Pandemic in the United States
Adrienne G. Randolph et al.
PEDIATRICS (2011)
Virus-associated hemophagocytic syndrome as a major contributor to death in patients with 2009 influenza A (H1N1) infection
Gernot Beutel et al.
CRITICAL CARE (2011)
Hemophagocytic Lymphohistiocytosis Induced by Severe Pandemic Influenza A (H1N1) 2009 Virus Infection: A Case Report
Xiang-Yan Zhang et al.
CASE REPORTS IN MEDICINE (2011)
Autopsy Findings in Eight Patients With Fatal H1N1 Influenza
Paul W. Harms et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2010)
Lung Pathology in Fatal Novel Human Influenza A (H1N1) Infection
Thais Mauad et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2010)
Case Report: Novel Swine-Origin Influenza A (H1N1) Virus-Associated Hemophagocytic Syndrome-A First Case Report
Yishan Zheng et al.
AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE (2010)
Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein
J. G. Ryan et al.
ANNALS OF THE RHEUMATIC DISEASES (2010)
Delayed Clearance of Viral Load and Marked Cytokine Activation in Severe Cases of Pandemic H1N1 2009 Influenza Virus Infection
Kelvin K. W. To et al.
CLINICAL INFECTIOUS DISEASES (2010)
Features of the new pandemic influenza A/H1N1/2009 virus: virology, epidemiology, clinical and public health aspects
Julian W. Tang et al.
CURRENT OPINION IN PULMONARY MEDICINE (2010)
Cytotoxic therapy for severe swine flu A/H1N1
Jan-Inge Henter et al.
LANCET (2010)
The structural basis for membrane binding and pore formation by lymphocyte perforin
Ruby H. P. Law et al.
NATURE (2010)
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis
Sebastiaan J. Vastert et al.
RHEUMATOLOGY (2010)
Hemophagocytic lymphohistiocytosis (HLH) and related disorders
A. H. Filipovich
Hematology-American Society of Hematology Education Program (2009)
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms
Kejian Zhang et al.
ARTHRITIS AND RHEUMATISM (2008)
Efficient in vivo targeting of epidermal stem cells by early gestational intraamniotic injection of lentiviral vector driven by the keratin 5 promoter
Masayuki Endo et al.
MOLECULAR THERAPY (2008)
FOXP3 inhibits HIV-1 infection of CD4 T-cells via inhibition of LTR transcriptional activity
Nithianandan Selliah et al.
VIROLOGY (2008)
Perforin activity and immune homeostasis: the common A91V polymorphism in perforin results in both presynaptic and postsynaptic defects in function
Ilia Voskoboinik et al.
BLOOD (2007)
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
Jan-Inge Henter et al.
PEDIATRIC BLOOD & CANCER (2007)
Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis
KA Risma et al.
JOURNAL OF CLINICAL INVESTIGATION (2006)
Preliminary diagnostic guidelines for macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
A Ravelli et al.
JOURNAL OF PEDIATRICS (2005)
A91V is a polymorphism in the perforin gene not causative of an FHLH phenotype
UZ Stadt et al.
BLOOD (2004)
Natural killer cell dysfunction in patients with systemic-onset juvenile rheumatoid arthritis and macrophage activation syndrome
AA Grom et al.
JOURNAL OF PEDIATRICS (2003)
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome
MA Karim et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)