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| Status |
Public on Oct 01, 2014 |
| Title |
In vitro response of fibroblasts isolated from patients with RBCK1 deficiency |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
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.
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| Overall design |
Skin fibroblast cell lines were derived from controls (n=3), patients with deficiencies for RBCK1 (HOIL1) (n=2), MYD88 (n=1), and NEMO (n=1). Cells were cultured for 8 or 24 hours in the presence of TNF (5ng/ml) or IL1B (5ng/ml) or left unstimulated for the same length of time.
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| Contributor(s) |
Boisson B, Prando C, Laplantine E, Chrahieb M, Trejevo G, Gandhil P, Israelsson E, Xu Z, Bajolles F, Debré M, Bossuyt X, Rambaud C, Bonnet D, Quartier dit Maire P, Pascual V, Fournet J, Chaussabel D, Puel A, Israel A, Casanova J, Picard C |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
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| Submission date |
Jul 30, 2011 |
| Last update date |
Aug 13, 2018 |
| Contact name |
Elisabeth Israelsson |
| E-mail(s) |
[email protected]
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| Organization name |
AstraZeneca, IMED RIA
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| Department |
Translational Biology
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| Street address |
Pepparedsleden 1
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| City |
Molndal |
| ZIP/Postal code |
SE-431 83 |
| Country |
Sweden |
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| Platforms (1) |
| GPL10558 |
Illumina HumanHT-12 V4.0 expression beadchip |
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| Samples (46)
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| Relations |
| BioProject |
PRJNA146219 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE31064_RAW.tar |
26.2 Mb |
(http)(custom) |
TAR |
| GSE31064_non-normalized.txt.gz |
14.1 Mb |
(ftp)(http) |
TXT |
| GSE31064_normalized.txt.gz |
7.8 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
| Processed data are available on Series record |
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