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Accession IconGSE25742

Genome-wide profiling of whole blood from patients with defects in Toll-like receptors (TLRs) and IL-1Rs (the TIR pathway) signaling

Organism Icon Homo sapiens
Sample Icon 365 Downloadable Samples
Technology Badge IconIllumina HumanHT-12 V4.0 expression beadchip

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Description
The objective of this study is to: 1) Characterize the innate immune responsiveness of patients with inborn errors in Toll-IL1 receptor signaling pathway (IRAK4, MyD88 deficiencies) compared to healthy subjects, through the analysis of blood leukocytes' transcriptional profiles after stimulation with ligands for the whole set of Toll-like receptors and IL-1Rs plus whole bacteria. 2) Understand the redundancies in TLR pathway in humans. 3) Explore the use of blood profiling approaches to assess the immune status of an individual by using Primary Immune Deficiencies as a proof of principle.
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