Table 2.
Newborn screening results in AGS patients
| Sample ID | Individual | Gene | Years blood spot stored | C26:0 Lyso-PC | Interferon signature | |||
|---|---|---|---|---|---|---|---|---|
| First tier result C26:0 LPC(μM) | Second tier result C26:0 LPC(μM) | Natal | Post-natal | Age at post-natal sample | ||||
| LD_0838.0 | 1 | TREX1 | 2012 | 0.45 | 0.17 | 30.5 | NA | NA |
| LD_0993.0 | 2 | TREX1 | 2014 | 0.45 | 0.22 | 25.1 | NA | NA |
| LD_1126.0 | 3 | TREX1 | 2014 | 0.42 | 0.21 | 13.5 | NA | NA |
| LD_1179.0 | 4 | TREX1 | 2014 | 0.50 | 0.35 | 11.2 | NA | NA |
| LD_0945.0 | 5 | RNASEH2A | 2014 | 0.53 | 0.30 | 27.2 | 11.4 | 23 mo |
| LD_0184.0A | 6 | RNASEH2B | 1992 | 0.43 | 0.14 | 0.3 | 7.9 | 23 y |
| LD_0184.0B | 7 | RNASEH2B | 1995 | 0.71 | 0.34 | 18.6 | 16.1 | 17 y |
| LD_0195.0 | 8 | RNASEH2B | 2006 | 0.48 | 0.13 | 0.4 | 4.7 | 6 y 6 mo |
| LD_0201.0 | 9 | RNASEH2B | 2004 | 0.37 | 0.10 | 2.8 | 0.5 | 8 y 2 mo |
| LD_0655.0A also UDP_5356 | 10 | RNASEH2B | 1993 | 0.53 | 0.14 | 0.2 | 7.0 | 19 y |
| LD_0655.0B also UDP_5367 | 11 | RNASEH2B | 1998 | 0.58 | 0.20 | 0.4 | 8.6 | 14 y |
| LD_0990.0 | 12 | RNASEH2B | 2014 | 0.29 | 0.08 | −0.1 | −0.9 | 12 mo |
| LD_1124.0 | 13 | RNASEH2B | 2015 | 0.41 | 0.12 | 12.6 | 5.6 | NA |
| LD_1127.0 | 14 | RNASEH2B | 2012 | 0.35 | 0.11 | 8.6 | NA | NA |
| LD_0981.0 | 15 | RNASEH2C | 2014 | 0.19 | 0.08 | 14.6 | 9.4 | 11 mo |
| LD_0803.0 | 16 | SAMHD1 | 2012 | 0.35 | 0.18 | 13.7 | 16.1 | 3 y 8 mo |
| LD_1125.0 | 17 | SAMHD1 | 2011 | 0.42 | 0.07 | 13.9 | NA | NA |
| LD_1169.0 | 18 | SAMHD1 | 2011 | 0.41 | 0.08 | 12.2 | NA | NA |
| LD_0943.0 also UDP_8031 | 19 | IFIH1 | 2004 | 0.21 | 0.13 | 29.4 | 43.6 | 22 y |
Abbreviations: C26:0 Lyso-PC: C26:0-lysophosphatidylcholine; AGS: Aicardi Goutiere Syndrome; NA: non available. Grey shading levels over the cutt-off.
For C26:0 Lyso-PC the cutt-off of the first tier is ≥0.4 and for the 2nd tier is >0.24 for reanalysis and ≥0.4 for postive score. For the IFN score the cut-off for a positive signature is ≥1.96.