| Gene | Protein function | Sensing/activation pathway related to type I interferon signaling | Mutation effect | Major patient phenotypes |
|---|---|---|---|---|
| TREX1 | Deoxyribonuclease | Cytosolic DNA | LOF (recessive or dominant-negative) | AGS, FCL, SLE |
| SAMHD1 | Control of dNTP pool (±nuclease) | Cytosolic DNA (±cytosolic RNA) | LOF (recessive) | AGS, FCL, CVD |
| TMEM173 | Transduction of cytosolic type I interferon signal | Cytosolic DNA (±cytosolic RNA) | GOF (dominant) | SAVI, FCL |
| RNASEH2A | Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS |
| RNASEH2B | Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS, SP |
| RNASEH2C | Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS |
| POLA1 | Polymerase | Cytosolic RNA:DNA hybrids | X-linked recessive | XLPDR |
| ADAR1 | RNA editing | Cytosolic RNA | LOF (recessive or dominant-negative) | AGS, DSH, BSN, SP |
| IFIH1 | dsRNA sensor | Cytosolic RNA | GOF (dominant) | AGS, SP, SMS |
| RIG-I | dsRNA sensor | Cytosolic RNA | GOF (dominant) | Atypical SMS |
| SKIV2L | RNA helicase | Cytosolic RNA | LOF (recessive) | THES |
| UPS18 | Inhibition of ISG transcription | IFNAR1 signaling | LOF (recessive) | pseudo-TORCH |
| ISG15 | Inhibition of ISG transcription | IFNAR1 signaling | LOF (recessive) | MSMD, ICC |
| PSMB8 | Proteasome | Unknown | LOF (recessive) | PRAAS |
| PSMB4 | Proteasome | Unknown | LOF (recessive) | PRAAS |
| PSMA3 | Proteasome | Unknown | LOF (recessive) | PRAAS |
| ACP5 | Phosphatase activity related to osteopontin | Unknown | LOF (recessive) | SPENCD, SLE, cytopenias |
| C1q | Alternative complement pathway activity | Unknown | LOF (recessive) | SLE |
| Gene | Protein function | Sensing/activation pathway related to type I interferon signaling | Mutation effect | Major patient phenotypes |
|---|---|---|---|---|
| Deoxyribonuclease | Cytosolic DNA | LOF (recessive or dominant-negative) | AGS, FCL, SLE | |
| Control of dNTP pool (±nuclease) | Cytosolic DNA (±cytosolic RNA) | LOF (recessive) | AGS, FCL, CVD | |
| Transduction of cytosolic type I interferon signal | Cytosolic DNA (±cytosolic RNA) | GOF (dominant) | SAVI, FCL | |
| Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS | |
| Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS, SP | |
| Ribonuclease | Cytosolic RNA:DNA hybrids | LOF (recessive) | AGS | |
| Polymerase | Cytosolic RNA:DNA hybrids | X-linked recessive | XLPDR | |
| RNA editing | Cytosolic RNA | LOF (recessive or dominant-negative) | AGS, DSH, BSN, SP | |
| dsRNA sensor | Cytosolic RNA | GOF (dominant) | AGS, SP, SMS | |
| dsRNA sensor | Cytosolic RNA | GOF (dominant) | Atypical SMS | |
| RNA helicase | Cytosolic RNA | LOF (recessive) | THES | |
| Inhibition of ISG transcription | IFNAR1 signaling | LOF (recessive) | pseudo-TORCH | |
| Inhibition of ISG transcription | IFNAR1 signaling | LOF (recessive) | MSMD, ICC | |
| Proteasome | Unknown | LOF (recessive) | PRAAS | |
| Proteasome | Unknown | LOF (recessive) | PRAAS | |
| Proteasome | Unknown | LOF (recessive) | PRAAS | |
| Phosphatase activity related to osteopontin | Unknown | LOF (recessive) | SPENCD, SLE, cytopenias | |
| Alternative complement pathway activity | Unknown | LOF (recessive) | SLE |
BSN, bilateral striatal necrosis; CVD, cerebrovascular disease; DSH, dyschromatosis symmetrica hereditaria; FCL, familial chilblain lupus; GOF, gain-of-function; ICC, intracranial calcification; LOF, loss-of-function; MSMD, Mendelian susceptibility to mycobacterial disease; PRAAS, proteasome-associated autoinflammatory syndrome; SAVI, STING-associated vasculopathy with onset in infancy; SMS, Singleton-Merten syndrome; SP, spastic paraparesis; SPENCD, spondyloenchondrodysplasia; XLPDR, X-linked reticulate pigmentary disorder.
As a benefit of your subscription, you can share temporary access to restricted articles.
Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.
Please sign in to your personal account to gift article access.
As a benefit of your subscription, you can share temporary access to restricted articles.
Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.
Gift articles remaining: --
Each link will stop working after 30 days or 10 uses. You may create up to 10 links in a 30 day period.
Gift articles remaining: --
As a benefit of your subscription, you can share temporary access to restricted articles.
Each link will stop working after 30 days or 10 uses.
You have reached the limit of 10 links within a 30 day period.
Sharing content requires targeting cookies to be enabled. Please update your cookie preferences to use this feature.