Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
about
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cellsFamilial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosisHuman perforin mutations and susceptibility to multiple primary cancersPerforin pores in the endosomal membrane trigger the release of endocytosed granzyme B into the cytosol of target cells.Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)Cargos and genes: insights into vesicular transport from inherited human diseaseMacrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphismsNovel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosisDefective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patientsThe molecular pathology of primary immunodeficienciesNatural killer cell dysfunction is a distinguishing feature of systemic onset juvenile rheumatoid arthritis and macrophage activation syndromeHemophagocytic Lymphohistiocytosis in Children: Pathogenesis and TreatmentCytotoxic granule secretion by lymphocytes and its link to immune homeostasisHemophagocytic lymphohistiocytosis: review of etiologies and managementClinical characteristics and treatment outcomes of autoimmune-associated hemophagocytic syndrome in adultsHemophagocytic syndrome in children and adultsHemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesisSystematic review: macrophage activation syndrome in inflammatory bowel diseaseSyntaxin binding mechanism and disease-causing mutations in Munc18-2Defining the interaction of perforin with calcium and the phospholipid membraneKilling of Microbes and Cancer by the Immune System with Three Mammalian Pore-Forming Killer ProteinsCancers Related to Immunodeficiencies: Update and PerspectivesMacrophage activation syndrome in juvenile rheumatoid arthritis successfully treated with cyclosporine A: a case reportFatal sibling cases of familial hemophagocytic lymphohistiocytosis (FHL) with MUNC13-4 mutations: case reportsMacrophage activation syndrome: advances towards understanding pathogenesisHematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) stepDifferentially expressed genes in autosomal dominant osteopetrosis type II osteoclasts reveal known and novel pathways for osteoclast biologyJinx, an MCMV susceptibility phenotype caused by disruption of Unc13d: a mouse model of type 3 familial hemophagocytic lymphohistiocytosisSyntaxin 11 is required for NK and CD8⁺ T-cell cytotoxicity and neutrophil degranulationPerforin activates clathrin- and dynamin-dependent endocytosis, which is required for plasma membrane repair and delivery of granzyme B for granzyme-mediated apoptosisBiomarkers in systemic juvenile idiopathic arthritis: a comparison with biomarkers in cryopyrin-associated periodic syndromes[Hemophagocytic lymphohistiocytosis : A diagnostic challenge on the ICU].Molecular study of the perforin gene in familial hematological malignancies.Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.Protein kinase Cdelta regulates antigen receptor-induced lytic granule polarization in mouse CD8+ CTLFailed CTL/NK cell killing and cytokine hypersecretion are directly linked through prolonged synapse time.Granzyme A and B-deficient killer lymphocytes are defective in eliciting DNA fragmentation but retain potent in vivo anti-tumor capacity.Canine hemophagocytic histiocytic sarcoma: a proliferative disorder of CD11d+ macrophages.
P2860
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P2860
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
description
1999 nî lūn-bûn
@nan
1999 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@ast
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@en
type
label
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@ast
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@en
prefLabel
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@ast
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
@en
P2093
P1433
P1476
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
@en
P2093
F Le Deist
P A Mathew
R Dufourcq-Lagelouse
P304
P356
10.1126/SCIENCE.286.5446.1957
P407
P577
1999-12-01T00:00:00Z