Activated STING in a vascular and pulmonary syndrome.

ABSTRACT:

Background

The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation.

Methods

We analyzed the DNA of an index patient with early-onset systemic inflammation, cutaneous vasculopathy, and pulmonary inflammation. We sequenced a candidate gene, TMEM173, encoding the stimulator of interferon genes (STING), in this patient and in five unrelated children with similar clinical phenotypes. Four children were evaluated clinically and immunologically. With the STING ligand cyclic guanosine monophosphate-adenosine monophosphate (cGAMP), we stimulated peripheral-blood mononuclear cells and fibroblasts from patients and controls, as well as commercially obtained endothelial cells, and then assayed transcription of IFNB1, the gene en

SUBMITTER: Liu Y 

PROVIDER: S-EPMC4174543 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature