Publications by authors named "Lisa Isabel Olfe"
Front Immunol
October 2022
Article Synopsis
- Gain-of-function variants in the STING gene are responsible for STING-Associated Vasculopathy with onset in Infancy (SAVI), previously thought to only occur with heterozygous mutations.
- Recent findings highlight a specific homozygous variant, c.841C>T, causing SAVI in four unrelated patients, all presenting with interstitial lung disease and varying disease severity.
- This research challenges the established view of SAVI as an autosomal dominant condition, suggesting an autosomal recessive inheritance pattern and potentially aiding in diagnosis and treatment approaches.
