STING-associated vasculopathy with onset in infancy

Disease ID:1171
Name:STING-associated vasculopathy with onset in infancy
Associated with:1 target
Synonyms
SAVI | STING-associated vasculopathy, infantile-onset
Description
An autoinflammatory interferonopathy characterised by neonatal-onset of systemic inflammation especially affecting the skin, blood vessels, and lungs.
Database Links
OMIM: 615934

Targets

transmembrane protein 173
Drugs:  Since no agent directly targets STING, indirect inhibition by the JAK3 inhibitor tofacitinib was studied . Tofacitinib-induced JAK3 inhibition relieves SAVI symptoms by inhibiting the overactive IFN signaling pathway observed in SAVI pathology.
References:  1-2
Mutations:  transmembrane protein 173 is associated with 4 mutation. Click here for details

Ligands

No ligand related data available for STING-associated vasculopathy with onset in infancy

References

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1. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS et al.. (2014) Activated STING in a vascular and pulmonary syndrome. N. Engl. J. Med., 371 (6): 507-18. [PMID:25029335]

2. Seo J, Kang JA, Suh DI, Park EB, Lee CR, Choi SA, Kim SY, Kim Y, Park SH, Ye M et al.. (2017) Tofacitinib relieves symptoms of stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy caused by 2 de novo variants in TMEM173. J. Allergy Clin. Immunol., 139 (4): 1396-1399.e12. [PMID:28041677]