Top

Published in:

Open Access 01-12-2015 | Oral presentation

STING-associated vasculopathy with onset in infancy: new clinical findings and mutation in three Turkish children

Authors: F Kara Eroglu, I Gursel, M Gursel, A Duzova, AA de Jesus, RT Goldbach-Mansky, S Ozen

Published in: Pediatric Rheumatology | Special Issue 1/2015

Excerpt

STING-associated vasculopathy with onset in infancy (SAVI) is a recently identified autoinflammatory disease caused by gain-of-function mutations in TMEM173. This syndrome is a new interferonopathy characterized by neonatal-onset systemic inflammation with a severe cutaneous vasculopathy leading to extensive tissue loss and interstitial lung disease. …

Title: STING-associated vasculopathy with onset in infancy: new clinical findings and mutation in three Turkish children
Authors: F Kara Eroglu
I Gursel
M Gursel
A Duzova
AA de Jesus
RT Goldbach-Mansky
S Ozen
Publication date: 01-12-2015
Publisher: BioMed Central
Published in: Pediatric Rheumatology / Issue Special Issue 1/2015
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/1546-0096-13-S1-O85

2024 ASCO Annual Meeting

Springer Medicine

STING-associated vasculopathy with onset in infancy: new clinical findings and mutation in three Turkish children

Excerpt

2024 ASCO Annual Meeting

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Special Issue 1/2015

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing

Use of TNF inhibitors in the treatment of PAPA syndrome

Whole-Body MRI versus bone scintigraphy: which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?

Identification of ERAP1 protein allotypes in the Turkish population and evaluation of their contributions to Behçet's disease risk

Expression of Caspase-1 variants induced ER stress

Clinical and genetic analyses in a patient with PAPA syndrome complicated with inflammatory bowel disease