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©The Author(s) 2023.
World J Clin Pediatr. Jun 9, 2023; 12(3): 107-114
Published online Jun 9, 2023. doi: 10.5409/wjcp.v12.i3.107
Published online Jun 9, 2023. doi: 10.5409/wjcp.v12.i3.107
Table 1 DDX58 variants in children with immune-mediated diseases
No. | DDX58 variant | MAF | ClinVar | ACMG | IFN-I score (n.v.0-1.9 UE/L) | Diagnosis |
1 | c1061A>G (p.N354S) | 0.0001 | VUS | VUS | 2.13 | uSAID |
2 | c109G>A (p.E37K) | 0.000008 | Not reported | Likely non-pathogenic | N/A | uSAID |
3 | c.2587_2590dup (p.Cys864fs) | 0.0006 | Not reported | Likely pathogenic | 21.0 | SLE |
c.1740T>A (p.D580E) | 0.11 | Non-pathogenic | Non-pathogenic | |||
4 | c.431C>T (p.S144F) | 0.0277 | Non-pathogenic | Likely non-pathogenic | 13.31 | MCTD |
5 | c.T1740A (p.D580E) | 0.11 | Non-pathogenic | Non-pathogenic | 8.5 | SLE and MDS |
6 | c.1740T>A (p.D580E) | 0.11 | Non-pathogenic | Non-pathogenic | 24.35 | SLE |
7 | c.1740T>A (p.D580E) | 0.11 | Non-pathogenic | Non-pathogenic | 18.93 | uSAID |
Table 2 IFIH1 variants in children with immune-mediated diseases
No. | IFIH1 variant | MAF | ClinVar | ACMG | IFN-score (n.v. 0-1.9 UE/L) | Diagnosis |
1 | c.2035_2036del (p.L679Ifs*2) | 0.0001 | VUS | VUS | 5.4 | uSAID |
c.1795delG (p.V599Ffs*5) | Not reported | Not reported | ||||
2 | c.1558A>G (p.T520A) | 0.0002 | CIP | VUS | 5.52 | uSAID |
3 | c.1784G>A (p.R595H) | 0.0001 | Likely benign | VUS | 29.0 | JDM |
4 | c.1879G>T (p.E627X) | 0.003 | CIP | VUS | 20.2 | SLE-like disease |
5 | c.1879G>T (p.E627X) | 0.003 | CIP | VUS | 11.3 | SLE |
6 | c.1879G>T (p.E627X) | 0.003 | CIP | VUS | 2.95 | PFAPA |
7 | c.A2767G (p.I923V) | 0.0126 | Benign/likely benign | Benign | 10.0 | soJIA |
- Citation: Raupov R, Suspitsin E, Belozerov K, Gabrusskaya T, Kostik M. IFIH1 and DDX58 gene variants in pediatric rheumatic diseases. World J Clin Pediatr 2023; 12(3): 107-114
- URL: https://www.wjgnet.com/2219-2808/full/v12/i3/107.htm
- DOI: https://dx.doi.org/10.5409/wjcp.v12.i3.107