Table 1.
Patients with ‘genetic’ SLE and disease-causing variants
| Patient ID | Gene (variant) | Likely effects | Function affected/predicted effect (snpEFF, ClinVar, snpNexus and PubMed) | Zygosity | Inheritance pattern | Reference |
|---|---|---|---|---|---|---|
| 15009 | C1S (rs117907409) | Disease-causing | Deleterious | Heterozygous | AD | [14] |
| SAMHD1 (c.811C>A) | Disease-causing and/or -modifying | Impacts catalytic activity | Heterozygous | AD/AR | [12] | |
| 15015 | C3 (rs117793540) | Disease-causing and/or -modifying | Gain-of-function | Heterozygous | AD/AR | [33, 34] |
| TREX1 (rs1331920811) | Disease-causing and/or -modifying | Loss-of-function | Heterozygous | AD/AR | [13] | |
| 15033 | SAMHD1 (c.811C>A) | Disease-causing and/or -modifying | Impacts catalytic activity | Heterozygous | AD | [12] |
| IRF7 (c.−283-1G>T) | Disease-modifying | Loss-of-function | Heterozygous | AR | — | |
| 15049 | C3 (c.4341C>A) | Disease-causing | Loss-of-function | Heterozygous | AD/AR | — |
| RNASEH2B (c.184G>T) | Disease-modifying | Deleterious | Heterozygous | AR | — | |
| 15068 | BANK1 (rs928173624) | Disease-causing | Loss-of-function | Heterozygous | N/A | [16, 18] |
| 15070 | PTPN22 (c.369 + 1G>T) | Disease-causing | In silico predicted ‘high impact’ | Heterozygous | AD | — |
| 15087 | TNFAIP3 (rs776714084), RNASEH2A (rs549586181) | Disease-causing | Loss-of-function | Heterozygous | AD | — |
| Disease-modifying | Loss-of-function | Heterozygous | AR | [13] | ||
| 15111 | C3 (c.1303G>T) | Disease-causing | Loss-of-function | Heterozygous | AD/AR | — |
| TNFSF4 (c.368_369delAG) | Disease-modifying | Loss-of-function | Heterozygous | N/A | — | |
| RNASEH2C (rs759118175) | Disease-modifying | Loss-of-function | Heterozygous | AR | — | |
| 21058 | TREX1 (rs749323787) | Disease-causing | Loss-of-function | Heterozygous | AD/AR | [18] |
| 21067 | SAMHD1 (rs1400380009) | Disease-causing | Impacts catalytic activity | Heterozygous | AD/AR | — |
| 21123 | PEPD (rs529315200) | Disease-modifying | Loss-of-function | Heterozygous | AR | [24] |
| 33007 | DNASE1 (rs201571412) | Disease-causing | Loss-of-function | Heterozygous | AD | [11] |
AD: autosomal dominant inheritance; AR: autosomal recessive inheritance, BANK1: B cell scaffold protein with ankyrin repeats 1; C1S: complement C1S; C3: complement C3; DNASE1: deoxyribonuclease 1; IRF7: interferon regulatory factor 7; N/A: not available; PEPD: peptidase D; PTPN22: protein tyrosine phosphatase non-receptor type 22; RNASEH2A: ribonuclease H2 subunit A; RNASEH2B: ribonuclease H2 subunit B; RNASEH2C: ribonuclease H2 subunit C; SAMHD1: SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1; TNFAIP3: TNF-α induced protein 3; TNFSF4: TNF superfamily member 4; TREX1: three prime repair exonuclease 1.