Examples: histone, BN000065

Project: PRJNA578738

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 skin fibroblasts 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 skin fibroblasts isolated from skin biopsies obtained from 3 AD-HIES patients and 3 healthy volunteers, 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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