Table 4.
Overview on interfernopathies.
| NAME | MAIN CLINICAL FEATURES | THERAPEUTIC APPROACHES DESCRIBED IN LITERATURE |
|---|---|---|
| Aicardi-Goutières Syndrome | Recurrent fever episodes starting in the first month of life; subacute leukoencephalopathy; basal ganglia calcification; | Ongoing trial on reverse transcriptase inhibitors for AGS *Possible role for JAK/STAT inhibitors *Possible role for anti-IFN-α monoclonal antibodies * for all interferonopathies |
| Chilblains; livedo reticularis | ||
| SAVI | Systemic features including fever, anemia, failure to thrive; vasculopathy of the extremities resulting in ulceration and mutilation; livedo reticularis; raynaud phenomenon; lung interstitial disease | |
| PRAAS | JMP Syndrome: joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy | |
| Nakajo Nishimura Syndrome: pernio-like lesions, recurrent fever, nodular skin eruption, lipodystrophy of extremities and joint contractures. | ||
| Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE): recurrent fever, purpuric skin lesions, progressive lypodistrophy, atypical facies, failure to thrive | ||
| Singleton-Merten Syndrome | Progressive calcifications of large blood vessels; dental dysplasia (absent in Atypical form); skeletal abnormalities; osteoporosis |