Table 1.
The monogenic interferonopathies
| Disease | Gene | Protein | Defect | Cardinal features | |
|---|---|---|---|---|---|
| AGS1 | TREX1 | TREX1 | LOF, exonuclease | Deep CNS calcifications, chronic neurologic damage, chilblain or livedo rash, hepatosplenomegaly | [14, 15, 50] |
| AGS2 | RNASEH2B | RNH2B | LOF, RNAse | ||
| AGS3 | RNASEH2C | RNH2C | |||
| AGS4 | RNASEH2A | RNH2A | |||
| AGS5 | SAMHD1 | SAMH | LOF, nuclease | ||
| AGS6 | ADAR | ADAR | LOF, RNA deaminase | ||
| AGS7 | IFIH1 | MDA5 | GOF, RNA sensor | ||
| PRAAS/CANDLE | PSMB8 | PSMB5i/B5i | LOF, proteasome | Nodules, panniculitis, lipodystrophy, fevers, myositis, abdominal fat, HSM | [6–9] |
| SAVI | TMEM173 | STING | GOF, DNA sensing | CNS/small vessel infarcts, fevers, interstitial lung disease, acral skin infarcts, purpura | [11, 12] |
| ISG15 def. | ISG15 | ISG15 | LOF, protein modification | Basal ganglia calcification, mycobacterial infection | [16, 17] |
| SPENCDI | ACP5 | TRAP | LOF, phosphatase | Skeletal dysplasia, calcifications, spasticity, autoimmunity | [18, 19] |
LOF loss of function, GOF gain of function, HSM hepatosplenomegaly, CNS central nervous system