biostudies-literatureLiu YIntramural NIH HHS507-518https://www.ebi.ac.uk/biostudies/studies/S-EPMC4174543biostudies-literatureUnknown371(6)<h4>Background</h4>The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation.<h4>Methods</h4>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 enThe New England journal of medicineActivated STING in a vascular and pulmonary syndrome.PMC4174543ZIA AR041138Hill SBrooks SRTrier AMBoehm MDeng ZPlass NBarysenka ADiMattia MAKastner DLJesus AADiGiovanna JJMarrero BYang DSt Hilaire CCandotti FPaller ASSanchez GAMStone DLMinniti CPGonzalez BBiancotto ATsai WLTenbrock KKim HWittkowski HFleisher TALee CRGadina MLiu YRaffeld MFontana JRHughes JDMcElwee JKuehn HSHolland SMFoell DRamsey SEMehmet HKim HJGurprasad SCowen EWRosenzweig SDGoldbach-Mansky RMoir SSteven ACHorkayne-Szakaly IJones OYIssekutz ACHuang YWingfield PTChapelle DPalmer IfalseActivated STING in a vascular and pulmonary syndrome.<h4>Background</h4>The study of autoinflammatory diseases has uncovered mechanisms underlying cytokine dysregulation and inflammation.<h4>Methods</h4>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 en2014-01-01T00:00:00Z2014 Aug2026-05-03T11:55:51.724Z2019-03-27T01:36:20ZS-EPMC41745432502933510.1056/nejmoa131262510.1056/NEJMoa1312625