STING-associated vasculopathy with onset in infancy

An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis,

An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31.

Signs and symptoms

• Pustular rash
• Periungual erythema
• Livedo reticularis
• Nailfold capillary tortuosity
• Failure to thrive
• Recurrent infections
• Telangiectasia
• Decreased total lymphocyte count
• Elevated erythrocyte sedimentation rate
• Raynaud phenomenon

Also known as: SAVI