STING-associated vasculopathy with onset in infancy (SAVI)
Interferon Mediated Autoinflammatory Diseases
Timing of symptoms:
Continuous, starting in infancy with fevers and progressive skin lesions and vasculitic changes. Cold-induced flares. 
Age of onset:
Infancy-before 8 weeks in most cases. 
Cold-induced flares.  Relapsing malar rash, thin hair.  Scaling, pustular, violaceous and/or blistering rashes on the distal fingers, toes, nose, cheeks, & pinnae of the ears that develops into acral necrosis and/or gangrene (leading to amputation of digits). Eschar and painful crusts on ulcerated lesions. Skin lesions worsen in the winter.  Skin biopsy: Inflammatory infiltrate of the dermis plus signs of leukocytoclastic vasculitis & microthrombotic angiopathy of the dermal small vessels and leukocytoclasia. Also deposits of IgM or vessels with fibrin.  One case of fatal necrotizing facscitis. Telangiectasias, Raynaud's, livedo reticularis, perforated nasal septum.  Nail loss or dystrophy. 
Rare: basal ganglia calcifications. Normal cognitive function.
Not noted 
Not noted 
Interstitial lung disease and pulmonary fibrosis noted on CT scan in many patients, that in some cases can be fatal.   Emphysema  Tachypnea at birth , abnormal pulmonary-function test (PFT). A few with arterial hypertension.  Hilar or paratracheal lymphadenopathy, mixed, scattered lymphocytic inflammatory infiltrate on a lung biopsy. 
Not noted 
High: ESR, CRP, IgG, IgA. Hypergammoglobulinema. Anemia, leukopenia, thrombocytosis, T-cell lymphopenia with normal B cells.  Normal or low positive ANA, c-ANCA, p-ANCA, antiphospholipid antibodies that later disappear, or are variable.   
telangiectasias, hypergammoglobulinema, anemia, thrombocytosis, T cell lymphopenia, normal B cells, vasculitis, nailfold capillary tortuosity, arthritis, nailfold, polyarthritis, myositis, arthralgia, lymphadenopathy, failure to thrive, emphysema, pulmonary, respiratory, pulmonary-function test, basal ganglia calcifications, calcifications, Cold-induced, cold induced, cold triggered, cold-triggered, malar rash, thin hair, violaceous,violet, purple, necrosis, nail,nail necrosis, acral necrosis, gangrene, amputation, eschar, angiopathy, perforated nasal septum, dystrophy, nail loss, nose damage, TMEM173, SAVI, STING-associated vasculopathy, interferon, cold induced, cold triggered, cold-triggered, nail, arthritis, hair, acral, necrosis, nose sore, nose lesion, T cell, ANA, c-ANCA, p-ANCA, enlarged lymph nodes, blisters, ear rash, ear blisters, ear necrosis, vascular, pain, joint pain, ear sore, Raynaud's, livedo reticularis, lacy skin rash, IgG, IgA
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