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Accession IconGSE92466

Inherited human IRAK-1 deficiency selectively abolishes TLR signaling in fibroblasts

Organism Icon Homo sapiens
Sample Icon 64 Downloadable Samples
Technology Badge IconIllumina HumanHT-12 V4.0 expression beadchip

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Description
We describe here a male infant with a 100 kb de novo Xq28 deletion encompassing parts of the TMEM187 and MECP2 protein-coding genes and the IRAK1 protein-coding gene, as well as the MIR3202-1, MIR3202-2, and MIR718 RNA-coding genes. We analyzed the impact of human IRAK-1 deficiency on a genome-wide gene expression in human fibroblasts in response to TLR2/6, TLR4 agonists as well as to IL-1 and TNF-, using primary fibroblasts from healthy controls and IRAK-4-, MyD88- and MECP2-deficient patients for comparison.
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