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RNAseq on PBMC of three patients with Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5) and three age and sex-matched controls

ABSTRACT: RNAseq on PBMC of three patients with Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5) and three age and sex-matched controls

PROVIDER: PRJEB37202 | ENA |

REPOSITORIES: ENA

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RNAseq on PBMC of three patients with Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5) and three age and sex-matched controls

Project description:RNAseq on PBMC of three patients with Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5) and three age and sex-matched controls.

2020-03-31 | E-MTAB-8875 | biostudies-arrayexpress

RNAseq on PBMC of two patients with a novel syndromic entity combining immunodeficiency, lymphoproliferation and HLH-like phenotypes, and three age and sex-matched controls for each patient.

Project description:The study describes two independent cases of NCKAP1L-deficiency, both carrying homozygous non-sense or splice variants in the NCKAP1L gene. The patients presented a phenotype of immunodeficiency, lymphoproliferation and hyperinflammation with features of Hemophagocytic Lymphohistiocytosis (HLH).

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Project description:RNAseq on PBMC of three patients with Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL5) and three age and sex-matched controls

2020-07-20 | E-MTAB-8875 | ExpressionAtlas

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Project description:Next Generation Mendelian Genetics: Familial Hemophagocytic Lymphohistiocytosis

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Immature cell populations and an erythropoiesis gene expression signature in systemic juvenile idiopathic arthritis: Implications for pathogenesis

Project description:Objective. Previous observations suggest that active systemic juvenile idiopathic arthritis (sJIA) is associated with a prominent erythropoiesis gene expression signature. The aim of this study was to determine the association of this signature with peripheral blood mononuclear cell (PBMC) subpopulations and its specificity for sJIA as compared to related conditions. 125 patients with JIA (18 sJIA and 107 non-sJIA) and 29 controls were studied. PBMC were isolated and analyzed for multiple surface antigens by flow cytometry and for gene expression profiles. The proportions of different PBMC subpopulations were compared among sJIA, non-sJIA patients and controls and subsequently correlated with the strength of the erythropoiesis signature. Additional gene expression data from patients with familial hemophagocytic lymphohistiocytosis (FHLH) and from a published sJIA cohort were analyzed to determine if the erythropoiesis signature was present. Keywords: Patient Vs Control, reassassment of phenotype

2010-06-25 | GSE21521 | GEO

Murine Model of Familial Hemophagocytic Lymphohistiocytosis Hepatitis is Mediated by IFN-γ in a Predominantly Hepatic-Intrinsic Manner

Project description:Interferon gamma (IFN-γ) is the main cytokine driving Familial Hemophagocytic Lymphohistiocytosis (FHL) organ dysfunction. Hepatocytes are known to have IFN-γ receptor (IFN-γ-R). Blockade of IFN-γ pathway ameliorates FHL hepatitis, in animal models and in humans. However, whether IFN-γ induced hepatitis in FHL is a lymphocyte or liver intrinsic response to the cytokine has yet to be elucidated. We report that IFN-γ-mediated hepatic injury in the murine model of FHL is caused by direct effect on the liver and has a necessary role in recruitment of the inflammatory mediators of injury in FHL: inflammatory monocytes and CD8+ effector memory T lymphocytes (CD8+ CD44hi CD62Llo) (Tem).

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Immature cell populations and an erythropoiesis gene expression signature in systemic juvenile idiopathic arthritis: Implications for pathogenesis

2010-07-30 | E-GEOD-21521 | biostudies-arrayexpress

Murine Model of Familial Hemophagocytic Lymphohistiocytosis Hepatitis is Mediated by IFN-γ in a Predominantly Hepatic-Intrinsic Manner

Project description:Murine Model of Familial Hemophagocytic Lymphohistiocytosis Hepatitis is Mediated by IFN-γ in a Predominantly Hepatic-Intrinsic Manner

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Expression data of wild-type and perforin-knockout CAR-T cell

Project description:Murine chimeric antigen receptor transduced T cells (CAR-T cells) deficient in perforin recapitulate hemophagocytic lymphohistiocytosis (HLH)-like toxicities occuring in human CAR-T recipients. We used microarray to describe gene expression profiles of wild-type and perforin-deficient CAR-T cells.

2020-10-07 | GSE130929 | GEO

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