Table 4.
Diseases with prominent interferon (IFN) (mainly type 1) signatures and phenotypic similarities to proteasome-associated disorders
| Syndrome | Gene | Enzyme defect | Studies indicating IFN signature |
|---|---|---|---|
| Monogenic disorders | |||
| Systemic lupus erythematosis (with immunodeficiencies) | C1QA, C1QB, C1QC | Complement defect, C1q deficiency | [117,118] |
| Aicardi–Goutières syndrome (AGS) | TREX1→ | 3′ to 5′ DNA exonuclease digests DNA : RNA hybrids putative nuclease | [113,114,142] |
| RNaseH2→ | |||
| SAMHD1→ | |||
| Spondyloenchondrodysplasia (SPENCD) | ACP5 | Tartrate-resistant acid phosphatase (TRAP) accumulation of phosphorylated osteopontin | [102,103] |
| JMP, NNS, JASL, CANDLE | PSMB8 and others | Proteasome dysfunction and accumulation of polyubiquitilated proteins | [24]–[27] |
| Diseases with unknown genetics | |||
| Dermatomyositis (some forms) | nk | NA | [106]–[109] |
nk: not known; JMP: joint contractures, muscle atrophy, panniculitis induced lipodystrophy syndrome; NNS: Nakajo–Nishimura syndrome; JASL: Japanese autoinflammatory syndrome with lipodystrophy; CANDLE: chronic atypical neutrophilic dermatitis with lipodystrophy and elevated temperatures.