Table 1 (abstract P258). See text for description
From: Proceedings of the 27th European Paediatric Rheumatology Congress (PReS 2021)
Nucleic acid sensing and IFN-signaling | Apoptotic and IC clearance | Variants found in combination |
|---|---|---|
RNASEL NM_021133 c.1880A>G (p.K627R)* | CR1 NM_000573 c.313C>T (p.R105C) CR1 NM_000573 c.4681G>A (p.V1561M) | CR1 NM_000573 c.1716G>T (p.Q572H) TLR1 NM_003263 c.893C>T (p.S298F) |
DDX58 NM_014314 c.2590_2591insTTCT (p.C864Ffs*9) | C1QA NM_015991 c.334C>T (p.Q112X) homozygous | DNASE1 NM_005223 c.460C>G (p.P154A); CR1 NM_000573 c.1716G>T (p.Q572H) |
TLR1 NM_003263 c.2031G>C (p.K677N) | Â | Â |
RNASEH2B NM_024570 c.295C>T (p.H99Y) | Â | Â |
TLR3 NM_003265 c.1311C>A (p.D437E) | Â | Â |