STING-associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions.
Janus kinase inhibitors
STING‐associated vasculopathy with onset in infancy (SAVI)
autoinflammatory diseases
interstitial lung disease (ILD)
skin ulcer
Journal
Pediatric dermatology
ISSN: 1525-1470
Titre abrégé: Pediatr Dermatol
Pays: United States
ID NLM: 8406799
Informations de publication
Date de publication:
29 Apr 2024
29 Apr 2024
Historique:
received:
01
01
2024
accepted:
30
03
2024
medline:
29
4
2024
pubmed:
29
4
2024
entrez:
29
4
2024
Statut:
aheadofprint
Résumé
STING-associated vasculopathy with onset in infancy (SAVI) is caused by pathogenic gain-of-function variants in the gene TMEM173 (also named stimulator of interferon genes, STING1). This report details the case of an 11-year-old girl with SAVI who presented with skin-limited symptoms and discusses the phenotype-genotype correlations of the TMEM173 variant present in our patient. Treatment of SAVI focuses on preventing the development or progression of organ damage by reducing systemic inflammation. We summarize the available treatments for this syndrome.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Wiley Periodicals LLC.
Références
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