Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza

Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry

(2016) Valentina Cetica et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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 Collaborat

(2016) Angelo Ravelli et al.   Arthritis & Rheumatology

Pathogenesis of Macrophage Activation Syndrome and Potential for Cytokine- Directed Therapies

(2015) Grant S. Schulert et al.   Annual Review of Medicine

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

(2015) W. A. Spessott et al.   BLOOD

Heterozygosity for the common perforin mutation, p.A91V, impairs the cytotoxicity of primary natural killer cells from healthy individuals

(2015) Imran G House et al.   IMMUNOLOGY AND CELL BIOLOGY

Report of a Fatal Pediatric Case of Hemophagocytic Lymphohistiocytosis Associated with Pandemic Influenza A (H1N1) Infection in 2009

(2015) Biswas Shrestha et al.   Pediatrics and Neonatology

11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism

(2015) Grant S. Schulert et al.   ARTHRITIS CARE & RESEARCH

Inhibition of Natural Killer Cell Cytotoxicity by Interleukin-6: Implications for the Pathogenesis of Macrophage Activation Syndrome

(2015) Loredana Cifaldi et al.   Arthritis & Rheumatology

Histoplasmosis-Induced Hemophagocytic Syndrome: A Case Series and Review of the Literature

(2015) J. L. Townsend et al.   Open Forum Infectious Diseases

Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis

(2014) K. Zhang et al.   BLOOD

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)

(2014) Claudia Bracaglia et al.   Pediatric Rheumatology

Genetic Defects in Cytolysis in Macrophage Activation Syndrome

(2014) Mingce Zhang et al.   Current Rheumatology Reports

Clinical Features, Treatment, and Outcome of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A Multinational, Multicenter Study of 362 Patients

(2014) Francesca Minoia et al.   Arthritis & Rheumatology

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

(2014) Kenneth M. Kaufman et al.   Arthritis & Rheumatology

Performance of Current Guidelines for Diagnosis of Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis

(2014) Sergio Davì et al.   Arthritis & Rheumatology

Development and Validation of the HScore, a Score for the Diagnosis of Reactive Hemophagocytic Syndrome

(2014) Laurence Fardet et al.   Arthritis & Rheumatology

Analysis of Fatal Cases of Pandemic Influenza A (H1N1) Virus Infections in Pediatric Patients with Leukemia

(2013) Yaman Yöntem et al.   PEDIATRIC HEMATOLOGY AND ONCOLOGY

Macrophage activation syndrome induced by A/H1N1 influenza in cystic fibrosis

(2013) Rosaria Casciaro et al.   PEDIATRIC PULMONOLOGY

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

Perforinopathy: A Spectrum of Human Immune Disease Caused by Defective Perforin Delivery or Function

(2013) Ilia Voskoboinik et al.   Frontiers in Immunology

Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment

(2012) A Ravelli et al.   GENES AND IMMUNITY

Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis

(2012) Sebastian FN Bode et al.   ARTHRITIS RESEARCH & THERAPY

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

(2011) B. Jessen et al.   BLOOD

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

(2011) K. Zhang et al.   BLOOD

Hemophagocytic Lymphohistiocytosis Associated With 2009 Pandemic Influenza A (H1N1) Virus Infection

(2011) Halil Özdemir et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Critically Ill Children During the 2009-2010 Influenza Pandemic in the United States

(2011) A. G. Randolph et al.   PEDIATRICS

Autopsy Findings in Eight Patients With Fatal H1N1 Influenza

(2010) Paul W. Harms et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Novel Swine-Origin Influenza A (H1N1) Virus-Associated Hemophagocytic Syndrome—A First Case Report

(2010) Yishan Zheng et al.   AMERICAN JOURNAL OF TROPICAL MEDICINE AND HYGIENE

Delayed Clearance of Viral Load and Marked Cytokine Activation in Severe Cases of Pandemic H1N1 2009 Influenza Virus Infection

(2010) Kelvin K. W. To et al.   CLINICAL INFECTIOUS DISEASES

Features of the new pandemic influenza A/H1N1/2009 virus: virology, epidemiology, clinical and public health aspects

(2010) Julian W Tang et al.   CURRENT OPINION IN PULMONARY MEDICINE

Cytotoxic therapy for severe swine flu A/H1N1

(2010) Jan-Inge Henter et al.   LANCET

The structural basis for membrane binding and pore formation by lymphocyte perforin

(2010) Ruby H. P. Law et al.   NATURE

Lung Pathology in Fatal Novel Human Influenza A (H1N1) Infection

(2009) Thais Mauad et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein

(2009) J. G. Ryan et al.   ANNALS OF THE RHEUMATIC DISEASES

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

Hemophagocytic lymphohistiocytosis (HLH) and related disorders

(2009) A. H. Filipovich   Hematology-American Society of Hematology Education Program

Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms

(2008) Kejian Zhang et al.   ARTHRITIS AND RHEUMATISM

FOXP3 inhibits HIV-1 infection of CD4 T-cells via inhibition of LTR transcriptional activity

(2008) Nithianandan Selliah et al.   VIROLOGY

Efficient In Vivo Targeting of Epidermal Stem Cells by Early Gestational Intraamniotic Injection of Lentiviral Vector Driven by the Keratin 5 Promoter

(2007) Masayuki Endo et al.   MOLECULAR THERAPY