Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome.

ABSTRACT: There are more than 7000 described rare diseases, most lacking specific treatment. Autosomal-dominant hyper-IgE syndrome (AD-HIES, also known as Job's syndrome) is caused by mutations in STAT3. These patients present with immunodeficiency accompanied by severe nonimmunological features, including skeletal, connective tissue, and vascular abnormalities, poor postinfection lung healing, and subsequent pulmonary failure. No specific therapies are available for these abnormalities. Here, we investigated underlying mechanisms in order to identify therapeutic targets. Histological analysis of skin wounds demonstrated delayed granulation tissue formation and vascularization during skin-wound healing in AD-HIES patients. Global gene expression analysis in AD-HIES patient skin fibroblasts identifie

SUBMITTER: Dmitrieva NI 

PROVIDER: S-EPMC7410079 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature