Table 1 The main types of type I interferonopathies and their causative genes
Disease | Gene |
|---|---|
Aicardi-Goutières syndrome (AGS) | TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1 |
Retinal vasculopathy with cerebral leukodystrophy | TREX1 |
Familial chilblain lupus (FCL) | TREX1, SAMHD1, STING |
Systemic lupus erythematosus | TREX1, RNASEH2A-C, ACP5, DNASE1, DNASE1L3, C1QA-C, C4 |
STING-associated vasculopathy, infantile-onset | STING |
Singleton-Merten syndrome | IFIH1, RIGI |
Spondyloenchrondrodysplasia | ACP5 |
ISG15 deficiency | ISG15 |
USP18 deficiency | USP18 |
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature | PSMB8, PSMB4, PSMA3, PSMB9, POMP |
X-linked reticulate pigmentary disorder | POLA1 |
Panarteritis nodosa, childhood-onset | CECR1 |