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| Status |
Public on Jul 30, 2012 |
| Title |
In vitro responses of fibroblasts from patients with TBK1 deficiency after TLR3 dependent and independent stimuli |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by array
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| Summary |
We report here two unrelated HSE patients carrying different heterozygous mutations (D50A and G159A) in TBK1, the gene encoding TANK-binding kinase 1, a kinase at the crossroads of multiple IFN-inducing signaling pathways. Both mutant TBK1 alleles are loss-of-function, but through different mechanisms: protein instability (D50A) or a loss of kinase activity (G159A). Both are also associated with an autosomal dominant (AD) trait, but by different mechanisms: haplotype-insufficiency (D50A) or negative dominance (G159A). A defect in poly(I:C)-induced TLR3 responses can be detected in fibroblasts heterozygous for G159A, but not for D50A TBK1.
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| Overall design |
Skin fibroblast cell lines were derived from healthy controls (n=3), patients with deficiencies for TBK1 (n=2), TLR3 (n=2), STAT1 (n=1) and cultured for 2 or 8 hours in the presence of IFNa (105 IU/ml), IL1b (20ng/ml), or poly I:C (25ug/ml) or left unstimulated for the same length of time.
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| Contributor(s) |
Herman M, Ciancanelli M, Ou Y, Lorenzo L, Klaudel-Dreszler M, Pauwels E, Sancho-Shimizu V, Pérez de Diego R, Abhyankar A, Israelsson E, Guo Y, Cardon A, Rozenberg F, Lebon P, Tardieu M, Heropolitańska-Pliszka E, Chaussabel D, White MA, Abel L, Zhang S, Casanova J |
| Citation(s) |
22851595 |
| Submission date |
Jun 12, 2012 |
| Last update date |
Aug 13, 2018 |
| Contact name |
Elisabeth Israelsson |
| E-mail(s) |
elisabeth.israelsson@astrazeneca.com
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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 (58)
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| Relations |
| BioProject |
PRJNA168372 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE38652_RAW.tar |
26.2 Mb |
(http)(custom) |
TAR |
| GSE38652_non-normalized.txt.gz |
17.2 Mb |
(ftp)(http) |
TXT |
| Processed data included within Sample table |
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