TABLE 1.
AGS | Familial lupus | SAVI | CANDLE | Singleton‐merten | |
---|---|---|---|---|---|
Gene/pathway | TREX1, RNASEH2, SAMHD1, ADAR, IFIH1 | TREX1, SAMHD1 | TMEM173 | PSMB8 | IFIH1 DDX58 |
Cutaneous manifestations | |||||
Chilblain‐like lesions | + | + | + | + | + |
Digital necrosis | + | + | + | + | − |
Panniculitis | Occasional | − | − | − | + |
Heliotrope rash | − | − | − | + | − |
Telangiectasia | + | ||||
Interstitial lung disease | − | − | + | − | − |
Myositis | − | − | + | + | − |
Arthritis | − | − | + | + | − |
Constitutional fever | + | − | + | − | + |
Abbreviations: AGS, Aicardi Goutières syndrome, SAVI, sting‐associated vasculopathy with onset in infancy, CANDLE, Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperature.