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A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report.

Sophia WeidlerSarah KossChristine WolfNadja LucasJürgen BrunnerMin Ae Lee-Kirsch
Published in: Pediatric rheumatology online journal (2024)
Our findings demonstrate the phenotypic breadth of clinical SAVI manifestations. Given the therapeutic benefit of treatment with JAK inhibitors, early genetic testing for SAVI should be considered in patients with unclear systemic inflammation involving cutaneous, pulmonary, or musculoskeletal symptoms, and signs of immunodeficiency and autoimmunity.
Keyphrases
  • pulmonary hypertension
  • sleep quality
  • smoking cessation