Table 1 Clinical characteristics of patients with heterozygous p.R281Q disease-causing variant in STING reported in the literature
From: A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
Reference | Age (age at onset) | Sex | Clinical findings | Laboratory findings | Therapy |
|---|---|---|---|---|---|
Melki et al. [4] | 7 y (3 m) | F | severe ILD, PAH, pneumonia teleangiectatic skin lesions on cheeks and nose, recurrent skin infections with poor healing necrotizing granulomatous hepatitis feeding difficulties and growth retardation | inflammatory markers + ANA – ANCA - | limited response to steroids, MTX and TNFα-inhibitor, clinical improvement with ruxolitinib |
Li et al. [9] | index: 9 y (shortly after birth) | M | ILD, exertional cough and dyspnea, migratory polyarthralgia of fingers, toes, wrists and knees | RF + ANA + p-ANCA + | no long-term therapy |
brother: 4y (4 y) | M | interstitial changes on chest CT | n/a | none | |
father: 33 y (18 y) | M | ILD, exertional dyspnea | n/a | died of respiratory failure at 36 y | |
Nishida et al. [6] | 18y (2 y) | M | juvenile idiopathic arthritis dyspnea, interstitial pneumonia and emphysematous changes, growth retardation | inflammatory markers + ANA + p-ANCA + c-ANCA + | steroids, MTX, azathioprine, TNFα-inhibitor with good response of joint symptoms but progression of lung disease |
Wang et al. [7] | index: 37 y (19 y) | M | advanced ILD, pneumonia, PAH, clubbing, nail dystrophy | inflammatory markers + ANA + multiple auto-antibodies + | antibiotics and steroids without improvement; died at 37 y; 4 m after ruxolitinib was started |
son: 13 y (2 y) | M | ILD, migratory polyarthritis, malar rash, growth retardation | inflammatory markers + ANA + | ruxolitinib without improvement | |
son: 6y (2 y) | M | ILD, teleangiectasias | inflammatory markers + ANA + | none |