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| 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.
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| 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**
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| 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 |
| |
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| Platforms (1) |
| GPL21290 |
Illumina HiSeq 3000 (Homo sapiens) |
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| Samples (12)
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| This SubSeries is part of SuperSeries: |
| GSE139365 |
Gene expression analysis in primary cells derived from patients with Autosomal-dominant hyper-IgE syndrome (AD-HIES) |
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| Relations |
| BioProject |
PRJNA578735 |
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