TABLE 1.
Autoimmune and autoinflammatory diseases associated with mutations in RNA sensors and genes important for RNA homeostasis
| Gene | Function | Type of mutation | Consequence of mutation | Autoimmune/autoinflammatory disease |
|---|---|---|---|---|
| TLR7 | RNA sensing | Gain of function | Enhanced IFN signaling | SLE |
| TLR8 | RNA sensing | Gain of function (germline and somatic) | Enhanced response of TLR8 to ligands | Lymphoproliferative syndrome |
| UNC93B1 | TLR signaling regulator | Gain of function | Aberrant TLR7/TLR8 signaling | SLE |
| IFIH1 (encodes MDA5) | RNA sensing | Gain of function | Enhanced IFN signaling | SLE, AGS |
| ADAR1 | RNA editing | Loss of function | Accumulation of hypoedited host RNAs | AGS |
| PNPT1 (encodes PNPase) | RNA degradation | Loss of function | Increased dsRNAs in mitochondria are released to cytosol resulting in IFN response | Interferonopathy, AGS |
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(PNPase) Polynucleotide phosphorylase; (TLR) Toll-like receptor; (IFN) interferon; (SLE) systemic lupus erythematosus; (AGS) Aicardi-Goutières syndrome.
