STING-associated vasculopathy with onset in infancy (SAVI);TMEM173-AID

Order Genetic Testing

Acronym:
SAVI;TMEM173-AID

SAID group:
Interferon Mediated Autoinflammatory Diseases

Gene:
TMEM173

Inheritance:
Autosomal dominant.

Ethnicity:
Unknown

Frequency:
Unknown-rare

Timing of symptoms:
Continuous, starting in infancy with fevers and progressive skin lesions and vasculitic changes. Cold-induced flares. [98]

Age of onset:
Infancy-before 8 weeks in most cases. [98]

Skin cutaneous:
Cold-induced flares. [98] Relapsing malar rash, thin hair. [93] 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). Chilblains. Eschar and painful crusts on ulcerated lesions. Skin lesions worsen in the winter. [92] 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. [82] One case of fatal necrotizing facscitis. Telangiectasias, Raynaud's, livedo reticularis, perforated nasal septum. [98] Nail loss or dystrophy. [93]

Neurologic:
Rare: basal ganglia calcifications. Normal cognitive function.[98]

Auditory:
Not noted [98]

Ophthalamic:
Not noted [98]

Cardiopulmonary:
Interstitial lung disease and pulmonary fibrosis noted on CT scan in many patients, that in some cases can be fatal. [82] [93] Emphysema [98] Tachypnea at birth [92], abnormal pulmonary-function test (PFT). A few with arterial hypertension. [98] Hilar or paratracheal lymphadenopathy, mixed, scattered lymphocytic inflammatory infiltrate on a lung biopsy. [82]

Abdominal:
Failure to thrive is common. [82] Abdominal, liver or spleen issues are uncommon. [98]

Lymphatic:
Occasional general lymphadenopathy. [98] Hilar or paratracheal lymphadenopathy noted [82]

Joints bones muscles cartilage:
Seropositive polyarthritis. [82] Arthralgia, myositis. [98]

Vasculitis:
Widespread vasculitis. [82] Damaged small vessels are common, plus nailfold capillary tortuosity and the loss of capillary loops. Telangiectasias noted on the limbs and hard palate. [82]

Amyloidosis:
Not noted [82]

Abnormal labs:
High: ESR, CRP, IgG, IgA. Hypergammoglobulinema. Anemia, leukopenia, thrombocytosis, T-cell lymphopenia with normal B cells. [92] Normal or low positive ANA, c-ANCA, p-ANCA, antiphospholipid antibodies that later disappear, or are variable. [82] [92] [93]

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