Genetic Defects in Cytolysis in Macrophage Activation Syndrome

The 253-kb inversion and deep intronic mutations inUNC13Dare present in North American patients with familial hemophagocytic lymphohistiocytosis 3

(2014) Yaping Qian et al.   PEDIATRIC BLOOD & CANCER

Perforin deficiency impairs a critical immunoregulatory loop involving murine CD8+ T cells and dendritic cells

(2013) C. E. Terrell 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

The Hyperferritinemic Syndrome: macrophage activation syndrome, Still’s disease, septic shock and catastrophic antiphospholipid syndrome

(2013) Cristina Rosário et al.   BMC Medicine

Advances in understanding the pathogenesis of HLH

(2013) G. Naheed Usmani et al.   BRITISH JOURNAL OF HAEMATOLOGY

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

(2013) Birthe Jessen et al.   Frontiers in Immunology

Macrophage activation syndrome in children with systemic lupus erythematosus and children with juvenile idiopathic arthritis

(2012) Tellen D. Bennett et al.   ARTHRITIS AND RHEUMATISM

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

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

(2012) A Ravelli et al.   GENES AND IMMUNITY

Functional impact of A91V mutation of the PRF1 perforin gene

(2012) Natalia Martínez-Pomar et al.   HUMAN IMMUNOLOGY

Clinical features of adult patients with secondary hemophagocytic lymphohistiocytosis from causes other than lymphoma: an analysis of treatment outcome and prognostic factors

(2011) Han-Seung Park et al.   ANNALS OF HEMATOLOGY

Familial and Acquired Hemophagocytic Lymphohistiocytosis

(2011) G.E. Janka   Annual Review of Medicine

Gene expression profiling of peripheral blood mononuclear cells from children with active hemophagocytic lymphohistiocytosis

(2011) J. Sumegi et al.   BLOOD

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

(2011) K. Zhang et al.   BLOOD

The expanding spectrum of hemophagocytic lymphohistiocytosis

(2011) Alexandra H. Filipovich   Current Opinion in Allergy and Clinical Immunology

Hemophagocytic lymphohistiocytosis

(2011) Kimberly Risma et al.   CURRENT OPINION IN PEDIATRICS

Repeated TLR9 stimulation results in macrophage activation syndrome–like disease in mice

(2011) Edward M. Behrens et al.   JOURNAL OF CLINICAL INVESTIGATION

An International Consensus Survey of Diagnostic Criteria for Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis

(2011) S. DAVI et al.   JOURNAL OF RHEUMATOLOGY

Autopsy Findings in Eight Patients With Fatal H1N1 Influenza

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

Macrophage Activation Syndrome in the Acute Phase of Kawasaki Disease

(2010) Giuseppe A. Latino et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Successful treatment of severe paediatric rheumatic disease-associated macrophage activation syndrome with interleukin-1 inhibition following conventional immunosuppressive therapy: case series with 12 patients

(2010) P. M. Miettunen et al.   RHEUMATOLOGY

Macrophage activation syndrome in juvenile systemic lupus erythematosus: A multinational multicenter study of thirty-eight patients

(2009) Alessandro Parodi et al.   ARTHRITIS AND RHEUMATISM

Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy

(2009) Sumit Gupta et al.   Expert Review of Clinical Immunology

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

Day 1 multiple organ dysfunction syndrome is associated with poor functional outcome and mortality in the pediatric intensive care unit

(2009) Katri V. Typpo et al.   Pediatric Critical Care Medicine

Secondary hemophagocytic lymphohistiocytosis and severe sepsis/systemic inflammatory response syndrome/multiorgan dysfunction syndrome/macrophage activation syndrome share common intermediate phenotypes on a spectrum of inflammation

(2009) Leticia Castillo et al.   Pediatric Critical Care Medicine

Recognition of a Kawasaki Disease Shock Syndrome

(2009) J. T. Kanegaye et al.   PEDIATRICS

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

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

Macrophage activation syndrome in rheumatic disease: What is the role of the antigen presenting cell?

(2008) Edward M. Behrens   AUTOIMMUNITY REVIEWS

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

(2008) Nithianandan Selliah et al.   VIROLOGY

Highly elevated ferritin levels and the diagnosis of hemophagocytic lymphohistiocytosis

(2007) Carl E. Allen et al.   PEDIATRIC BLOOD & CANCER