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Series GSE139188 Query DataSets for GSE139188
Status Public on Aug 12, 2020
Title Gene expression analysis in endothelial cells derived from patients with Autosomal-dominant hyper-IgE syndrome (AD-HIES)
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Autosomal-dominant hyper-IgE syndrome (AD-HIES, Job’s syndrome) is a primary immunodeficiency caused by loss of function mutations in signal transducer and activator of transcription 3 (STAT3), a critical regulator of diverse cellular processes. In addition to immunological deficits, patients experience severe non-immunological features including skeletal, connective tissue and vascular abnormalities, poor post-infection healing, and subsequent pulmonary failure. The underlying mechanisms of these STAT3-dependent non-immunological features are not understood, preventing the development of targeted treatments.
In this study, global gene expression was analysed in the patients umbilical vein endothelial cells in order to identify signaling pathway affected by the disease-causing STAT3 mutations with ultimate goal to better understand the disease mechanism and identify promising therapeutic targets.
Overall design Cultured endothelial cells isolated from umbilical cords of 3 babies with AD-HIES STAT3 mutations and from 3 control cords were treated with or without TNFα for 8h and mRNA expression profiles were analyzed by RNA-Seq.

**RAW data not provided due to patient privacy concerns**
Contributor(s) Boehm M, Dmitrieva NI
Citation(s) 32369445
Submission date Oct 21, 2019
Last update date Aug 12, 2020
Contact name Manfred Boehm
Organization name NHLBI
Street address 9000 Rockbille Pike
City Bethesda
State/province MD
ZIP/Postal code 20892
Country USA
Platforms (1)
GPL21290 Illumina HiSeq 3000 (Homo sapiens)
Samples (12)
This SubSeries is part of SuperSeries:
GSE139365 Gene expression analysis in primary cells derived from patients with Autosomal-dominant hyper-IgE syndrome (AD-HIES)
BioProject PRJNA578735

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE139188_HUVEC_RNA-Seq.txt.gz 462.5 Kb (ftp)(http) TXT
Raw data not provided for this record
Processed data are available on Series record

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