STING-Associated Vasculopathy with Onset in Infancy (SAVI)

Genetic locus: 5q31

Gene: TMEM173

Protein: STING (stimulator of interferon gene)

Inheritance: autosomal dominant

Clinical findings:

(1) onset of systemic inflammatory symptoms in infancy with failure to thrive

(2) interstitial lung disease with pulmonary fibrosis

(3) skin lesions with digital necrosis, erosions, plaques and hyperkeratosis

(4) cartilage destruction (ear, other)

(5) chronic joint pain

(6) chronic myalgias

(7) easy fatigueability

Laboratory findings:

(1) elevated erythrocyte sedimentation rate (ESR)

(2) elevated C-reactive protein (CRP)

A biopsy of skin lesions show a dense neutrophilic inflammatory infiltrate with vasculopathy (leukocytoclastic vasculitis).