Table 4.
Detailed data of patients with positivity in autoimmune parameters.
| Case number | Diagnosis | Current age (years) | Gender | Gene | Mutation | Duration of ERT (months) | Autoantibody positivity (Antiphospholipid IgM (>10 U/ml)), Anti-gliadin IgA (> 10 U/ml) , Anti-gliadin IgG (>12 U/ml), ANA (>60), Anti-DNA (>20 IU/ml), Anticardiolipin IgM (>20 U/ml), Anti Thyroglobulin (>4 U/ml)), Anti TPO (>9 U/ml)) |
|---|---|---|---|---|---|---|---|
| C39 | Gaucher disease Type III | 40.5 | M | GBA | p.L335V/p.L335V | 62 | Antiphospholipid IgM: 92 |
| C2 | Gaucher disease Type III | 11 | M | p.D448H/p.D448H | 125 | Anti-gliadin IgG: 14 | |
| C40 | Gaucher disease Type III | 19.5 | F | p.D448H/p.D448H | 78 | ANA: 70 | |
| C41 | Gaucher disease Type III | 27.5 | F | p.N370S/p.N370S | 20 | Antiphospholipid IgM: 14 | |
| C5 | Gaucher disease Type III | 20.7 | F | p.L335V/p.L335V | 11 | Anticardiolipin IgM;71.3 | |
| C6 | Gaucher disease Type I | 22.9 | F | p.L335V/p.L335V | 35 | Anticardiolipin IgM: 88.3 | |
| C42 | Gaucher disease Type I | 2.5 | M | p.L335V/p.L335V | 22 | Anti-gliadin IgG; 12.6 | |
| C43 | Gaucher disease Type 1 | 23 | F | p.N370S/pR502H | 57 | Anti-thyroglobulin:76.2 | |
| C44 | Gaucher disease Type 1 | 2.7 | F | p.L483P/p.L483P | 30 | ICA positive | |
| C45 | Gaucher disease Type 1 | 54.6 | F | p.N370S/p.N370S | 139 | TRAb positive | |
| C46 | Gaucher disease Type 1 | 11.4 | M | ARSB | p.S366T/p.S366T | 86 | ICA Positive |
| C47 | Gaucher disease Type 1 | 30.4 | M | p.N370S/p.N370S | 30 | Anti-DNA: 25.8 | |
| C9 | Gaucher disease Type 1 | 13 | M | p.D448H/p.L335V | 32 | Anti-gliadin IgG: 19.8 | |
| C48 | Gaucher disease Type 1 | 26.5 | F | p.N370S/p.N370S | 127 | Anti-DNA: 28.9, anti-gliadin IgG: 26.1 | |
| C49 | Gaucher disease Type 1 | 24.8 | F | IVS2+1G>A/IVS2+1G>A | 173 | Anti-thyroglobulin: 41.8, anti-TPO: 133, anti-Gliadin IgG: 18.7 | |
| C50 | MPS Type VI | 12.6 | M | p.E346Sfs*13/p.E346Sfs*13 | 101 | Anti-DNA: 38.9 | |
| C51 | MPS Type VI | 5.2 | M | pp.L321P/p.L321P | 44 | Anti-gliadin IgG: 13.9 | |
| C52 | MPS Type VI | 20.5 | M | p.L321P/p.L321P | 62 | Anti-tissue transglutaminase Ab: 522 | |
| C18 | MPS Type IV | 23.1 | F | GALNS | p.W141R/p.W141R | 62 | Anti-gliadin IgG: 15.7 |
| C53 | MPS Type IV | 4.5 | M | p.P179S/p.P179S | 34 | Anti-gliadin Ig A: 12.1 | |
| C54 | MPS Type IV | 13.9 | F | Homozygous deletion of exon 14 | 8 | Anti-gliadin Ig A: 12.4, anti-gliadin IgG: 17 | |
| C27 | MPS Type III | 22.1 | F | NAGLU Alpha-N-acetylglucosaminidase: 0,15 (10–45) umol/1/h | -- | - | Anti-gliadin Ig A: 20.8 anti-gliadin IgG: 261 |
| C55 | MPS Type II | 13.9 | M | IDS | p.S87R/p.S87R | 137 | Anticardiolipin Ig M: 25.1 |
| C31 | MPS Type I | 4.2 | M | IDUA | p.Y202*/ p.Y202* | 21 | ICA positive |
| C36 | Pompe disease | 7.3 | F | GAA | p.E888*/p.E888* | 86 | ICA positive |
| C38 | Pompe disease | 8.6 | M | p.E888*/p.E888* | 101 | Anti-gliadin Ig A: 43.6 | |
| C35 | Pompe disease | 2.1 | M | p.L299P/p.L299P | 20 | Anti-gliadin Ig G: 31,3 | |
| C56 | Pompe disease | 4.3 | F | p.L299P/p.L299P | 50 | Anti-gliadin Ig A: 12, anti-Gliadin IgG: 31.4 |
ERT: enzyme replacement therapy; Ig: immunoglobulin, ANA: antinuclear antibody; TPO: thyroid peroxidase; ICA: islet cell antibodies; TRAb: thyrotropin receptor autoantibodies.