Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
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Human perforin mutations and susceptibility to multiple primary cancersThe role of natural killer cells in pathogenesis of autoimmune diseasesHemophagocytic lymphohistiocytosis: review of etiologies and managementReview: is there a window of opportunity for treatment of systemic juvenile idiopathic arthritis?Making sense of the cytokine storm: a conceptual framework for understanding, diagnosing, and treating hemophagocytic syndromesSystematic review: macrophage activation syndrome in inflammatory bowel diseaseMacrophage activation syndrome: advances towards understanding pathogenesisExonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.Decreased function of Fas and variations of the perforin gene in adult patients with primary immune thrombocytopenia.High dose Anakinra for treatment of severe neonatal Kawasaki disease: a case report.Pathogenesis of adult-onset Still's disease: new insights from the juvenile counterpart.Pathogenesis of systemic juvenile idiopathic arthritis: some answers, more questions.Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosisHypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.Systemic arthritis in children: a review of clinical presentation and treatment11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.Alternative activation in systemic juvenile idiopathic arthritis monocytesIs Still's Disease an Autoinflammatory Syndrome?Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling.Screening assays for primary haemophagocytic lymphohistiocytosis in children presenting with suspected macrophage activation syndromeEvidence-based diagnosis and treatment of macrophage activation syndrome in systemic juvenile idiopathic arthritis.Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.Intravascular large B-cell lymphoma associated with silicone breast implant, HLA-DRB1*11:01, and HLA-DQB1*03:01 manifesting as macrophage activation syndrome and with severe neurological symptoms: a case report.Macrophage Activation Syndrome: different mechanisms leading to a one clinical syndrome.Natural killer cells in human autoimmune disordersFamilial hemophagocytic lymphohistiocytosis: when rare diseases shed light on immune system functioning.Secondary hemophagocytic syndrome in adults: a case series of 18 patients in a single institution and a review of literature.Tocilizumab: molecular intervention therapy in children with systemic juvenile idiopathic arthritis.Not all hemophagocytes are created equally: appreciating the heterogeneity of the hemophagocytic syndromes.Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment.Treatment advances in systemic juvenile idiopathic arthritis.Macrophage activation syndrome and cytokine-directed therapies.Genetic defects in cytolysis in macrophage activation syndrome.Hereditary and acquired hemophagocytic lymphohistiocytosis.Pathogenesis of macrophage activation syndrome and potential for cytokine- directed therapies.Presentation and diagnosis of adult-onset Still's disease: the implications of current and emerging markers in overcoming the diagnostic challenge.Advances in immunopathogenesis of macrophage activation syndrome during rheumatic inflammatory diseases: toward new therapeutic targets?Inflammatory Gene Expression Profile and Defective Interferon-γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients.
P2860
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P2860
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@en
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@nl
type
label
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@en
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@nl
prefLabel
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@en
Mutations in the perforin gene ...... juvenile idiopathic arthritis.
@nl
P2093
P2860
P50
P921
P356
P1433
P1476
Mutations in the perforin gene ...... juvenile idiopathic arthritis
@en
P2093
Antonella Insalaco
Berent J Prakken
Elisabetta Cortis
Karen M K de Vooght
Leila E D'Urbano
Nico M Wulffraat
Richard van Wijk
Sebastiaan J Vastert
Wietse Kuis
P2860
P304
P356
10.1093/RHEUMATOLOGY/KEP418
P577
2009-12-17T00:00:00Z