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Transcriptome analysis in peripheral blood mononuclear cells (PBMC) from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

ABSTRACT: HOIL-1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the effect of TNF-α and IL-1β on transcriptional changes of PBMCs from HOIL-1- and MYD88-deficient patients.

ORGANISM(S): Homo sapiens

PROVIDER: GSE40838 | GEO | 2012/10/28

SECONDARY ACCESSION(S): PRJNA175062

REPOSITORIES: GEO

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Transcriptome analysis in peripheral blood mononuclear cells (PBMC) from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

Project description:HOIL-1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the effect of TNF-α and IL-1β on transcriptional changes of PBMCs from HOIL-1- and MYD88-deficient patients. PBMCs were obtained from HOIL-1 and MYD88-deficient patients and healthy donors and stimulated with TNF-α or IL-1β for 2 and 6 hours. RNA were extracted. Labeled cRNA were hybridized to Illumina Human HT-12 V4 Beadchips.

2012-10-28 | E-GEOD-40838 | biostudies-arrayexpress

Transcriptome analysis in primary fibroblasts from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

2012-10-28 | GSE40560 | GEO

Transcriptome analysis in primary fibroblasts from HOIL-1-deficient patients upon TNF-α or IL-1β stimulation

Project description:HOIL-1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the effect of TNF-α and IL-1β on transcriptional changes of primary fibroblasts from HOIL-1-, MYD88- and NEMO-deficient patients. Primary fibroblasts were obtained from HOIL-1, MYD88- and NEMO-deficient patients and healthy donors and stimulated with TNF-α or IL-1β for 2 and 6 hours. RNA were extracted and globin reduced. Labeled cRNA were hybridized to Illumina Human HT-12 Beadchips.

2012-10-28 | E-GEOD-40560 | biostudies-arrayexpress

Transcriptional analysis of whole blood in patients with auto-inflammatory disorders

2012-10-28 | GSE40561 | GEO

Transcriptional analysis of whole blood in patients with auto-inflammatory disorders

Project description:HOIL1 deficient disease is a new early onset fatal autosomal recessive human disorder charaterized by chronic auto-inflammation, recurrent invasive bacterial infections and progressive muscular amylopectinosis. We studied the transcriptional profiles of whole blood from one HOIL dificient patient and other auto-inflammatory patients, including CINCA, Muckle-Wells syndrome and MVK deficiency. Whole blood was collected in Tempus tubes from 41 healthy children and patients with CINCA (2), MWS (5), MVK deficiency (2) and HOIL deficiency (1) diseases. RNA was extracted and globin reduced. Labeled cRNA was hybridized to Illumina Human HT-12 Beadchips.

2012-10-28 | E-GEOD-40561 | biostudies-arrayexpress

Transcriptional analysis of whole blood, primary fibroblasts, and PBMCs upon TNF-alpha or IL-1beta stimulation from HOIL-1-deficient patients

Project description:This SuperSeries is composed of the following subset Series: GSE40560: Transcriptome analysis in primary fibroblasts from HOIL-1-deficient patients upon TNF-alpha or IL-1beta stimulation GSE40561: Transcriptional analysis of whole blood in patients with auto-inflammatory disorders GSE40838: Transcriptome analysis in peripheral blood mononuclear cells (PBMC) from HOIL-1-deficient patients upon TNF-alpha or IL-1beta stimulation Refer to individual Series

2012-10-28 | E-GEOD-40752 | biostudies-arrayexpress

In vitro response of fibroblasts isolated from patients with RBCK1 deficiency

Project description:Loss-of-expression and loss-of-function mutations in HOIL1 (RBCK1) results in disruption of the linear ubiquitination assembly complex (LUBAC). Impairment of LUBAC results in impaired NF-kB activation in response to TNF and IL-1b in fibroblastic cells, but also display enhanced pro-inflammatory responses to TNF and IL-1b in leukocytes. Autosomal recessive complete human HOIL-1/RBCK1 deficiency is a new disorder with unbalanced cellular responses to pro-inflammatory cytokines, resulting in the paradoxical association of auto-inflammation and pyogenic bacterial disease, as well as the surprising development of muscular amylopectinosis. The genome-wide gene expression analysis showed that human HOIL-1 deficiency results in impaired NF-B activation in response to TNF- and IL-1 in fibroblastic cells.

2014-10-01 | GSE31064 | GEO

Global transcriptional profiles of WT and HOIL-1L-/- BMDMs in response to LPS and TNFa

2014-05-15 | GSE57180 | GEO

Transcriptional profiling of post-positive selection thymocytes from HOIL- and SHARPIN-deficient mice

Project description:Mice lacking components of the linear ubiquitin chain assembly complex (LUBAC) exhibit defects in thymocyte differentiation. To determine how two LUBAC components, HOIL and SHARPIN, mediate their effects, we purified thymocytes from CD4Cre Hoil-fl/fl or Sharpin-cpdm mice and compared their transcriptional profile to WT controls. We focused on the CD69+ MHCI low and CD69+ MHCI high subsets that follow positive selection.

2016-10-30 | GSE74552 | GEO

Global transcriptional profiles of WT and HOIL-1L-/- BMDMs in response to LPS and TNFa

Project description:HOIL-1L is an essential member of the linear ubiquitin assembly complex (LUBAC), which targets Nemo for linear ubiquitination during NF-kB activation in response to a variety of simuli, including LPS and TNFa treatment. HOIL-1L has also been suggested to function as a transcription factor. Here we analyzed changes in the global transcriptional profiles of primary bone marrow derived macrophage (BMDMs) from WT and HOIL-1L-/- mice upon treatment with NF-kB activating simuli. BMDMs were differentiated for 1 week and then treated with mock (untreated), 10ng/ml LPS, or 1ng/ml TNFa for 4 hours. RNA was immediately collected and analyzed in biological duplicates by the Agilent 8x60 mouse array.

2014-05-15 | E-GEOD-57180 | biostudies-arrayexpress

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