A Rare Manifestation of STING-Associated Vasculopathy with Onset in Infancy: A Case Report

    January 2024 in “ Pediatric rheumatology online journal ”
    Sophia Weidler, Sarah Koss, Christine Wolf, Nadja Lucas, Jürgen Brunner, Min Ae Lee‐Kirsch
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    TLDR Early genetic testing and JAK inhibitors can help treat systemic inflammation in SAVI patients.
    This case report details a 5-year-old boy and his mother diagnosed with STING-associated vasculopathy with onset in infancy (SAVI) due to a heterozygous R281Q STING variant. The boy exhibited alopecia totalis, recurrent respiratory infections, and interstitial lung disease, while the mother had inflammatory skin lesions and arthritis without lung involvement. Both showed significant improvement with JAK inhibitor treatment, particularly the child, who experienced hair regrowth and fewer infections. The study emphasizes the phenotypic variability of SAVI and the importance of early genetic testing and treatment to prevent severe organ damage.
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