Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis
about
Hemophagocytic lymphohistiocytosis: review of etiologies and managementReview: is there a window of opportunity for treatment of systemic juvenile idiopathic arthritis?Macrophage activation syndrome: advances towards understanding pathogenesisClinical analysis of macrophage activation syndrome in pediatric patients with autoimmune diseases.Distribution of circulating cells in systemic juvenile idiopathic arthritis across disease activity states.Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseasesPerforin: structure, function, and role in human immunopathology.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.11-Month-Old Infant With Periodic Fevers, Recurrent Liver Dysfunction, and Perforin Gene Polymorphism.Alternative activation in systemic juvenile idiopathic arthritis monocytesA Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.A comprehensive review of the genetics of juvenile idiopathic arthritis.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.Association of Macrophage Activating Syndrome with Castleman's Syndrome in Systemic Lupus Erythematosus.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.Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy.Secondary hemophagocytic syndrome in adults: a case series of 18 patients in a single institution and a review of literature.Familial hemophagocytic lymphohistiocytosis: a model for understanding the human machinery of cellular cytotoxicity.Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment.Advances in the pathogenesis and treatment of systemic juvenile idiopathic arthritis.Macrophage activation syndrome and cytokine-directed therapies.Genetic defects in cytolysis in macrophage activation syndrome.Complications of systemic juvenile idiopathic arthritis: risk factors and management recommendations.Presentation and diagnosis of adult-onset Still's disease: the implications of current and emerging markers in overcoming the diagnostic challenge.Inflammatory Gene Expression Profile and Defective Interferon-γ and Granzyme K in Natural Killer Cells From Systemic Juvenile Idiopathic Arthritis Patients.Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.Macrophage Activation Syndrome Associated with Adult-Onset Still's Disease Successfully Treated with Anakinra.Incidence and clinical presentation of primary hemophagocytic lymphohistiocytosis in Sweden.Acquired hemophagocytic syndrome: comment to the case report.Natural killer cell activity and frequency of killer cell immunoglobulin-like receptors in children with different forms of juvenile idiopathic arthritis.Population genomics of wild Chinese rhesus macaques reveals a dynamic demographic history and local adaptation, with implications for biomedical researchMacrophage activation syndrome: early diagnosis is key
P2860
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P2860
Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis
description
2008 nî lūn-bûn
@nan
2008 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@ast
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@en
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@nl
type
label
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@ast
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@en
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@nl
prefLabel
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@ast
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@en
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@nl
P2093
P921
P3181
P356
P1476
Mutations of the hemophagocyti ...... juvenile idiopathic arthritis
@en
P2093
Alexandra H Filipovich
Alexei Grom
Amy L Woodward
Barbara A Degar
Inga Hofmann
Melissa M Hazen
P304
P3181
P356
10.1002/ART.23199
P407
P577
2008-02-01T00:00:00Z