[STING-associated vasculopathy with onset in infancy: a case report].

Area of Science:

• Genetics
• Immunology
• Rheumatology

Background:

• STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease typically presenting in infancy.
• SAVI is caused by mutations in the TMEM173 gene, leading to interstitial lung disease, skin rash, and systemic inflammation.

Purpose of the Study:

• To report a rare case of adult-onset SAVI.
• To highlight the importance of genetic testing in diagnosing atypical presentations of SAVI.

Main Methods:

• Case report of a 28-year-old male with respiratory and dermatological symptoms.
• Computed tomography (CT) imaging revealed interstitial lung disease.
• Whole-exome sequencing identified a heterozygous mutation in the STING1 gene (c.842G>A, p.R281Q).

Main Results:

• The patient presented with cough, dyspnea, and erythematous rashes.
• CT scans showed bilateral diffuse fine reticular opacities and honeycombing.
• Genetic analysis confirmed the diagnosis of SAVI, revealing the p.R281Q mutation.

Conclusions:

• Adult-onset SAVI is a rare but possible presentation of this autoinflammatory disease.
• Genetic confirmation of STING1 mutations is crucial for diagnosing SAVI, even in adults.
• Early diagnosis and management, including lung transplantation and immunosuppression, can improve outcomes.