Table 2.
Characteristics of the antibody-positive patients
| Age (y.) | Mutation | ERT | Ab Titer ag. alfa | Ab Titer ag. beta | IgG1 | IgG2 | IgG3 | IgG4 | RRA alfa | RRA beta | lysoGb3 (ng/ml) | Renal event | Clinical phenotype | MSSI | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Exposure | Total | Cardio-vasc | General | Neuro | Renal | ||||||||||||||||
| Type | Time (months) | ||||||||||||||||||||
| 1 M | 43.8 | c.233C>G | p.Ser78* | B | 182.0 | 1,638,400 | 1,638,400 | ++++ | ++++ | ++++ | ++++ | 4% | 1% | 41.0 | yes | Classic | 45 | 15 | 7 | 5 | 18 |
| 2 M | 33.4 | c.847C>T | p.Gln283* | B | 159.3 | 1,638,400 | 1,638,400 | +++ | ++++ | ++++ | ++++ | 42% | 32% | 48.0 | Classic | 14 | 9 | 2 | 3 | 0 | |
| 3 M | 47.7 | c.522T>A | p.Cys174* | B | 3.2 | 1,638,400 | 1,638,400 | ++++ | +++ | +++ | + | 20% | 17% | 21.7 | Classic | 12 | 0 | 4 | 0 | 8 | |
| 4 M | 46.1 | c.901C>T | p.Arg301* | A | 78.2 | 819,200 | 819,200 | ++++ | ++++ | ++++ | ++++ | 41% | 35% | 60.0 | Classic | 28 | 3 | 11 | 14 | 0 | |
| 5 M | 33.2 | c.548G>C | p.Gly183Ala | A/B | 157.4 | 1,638,400 | 1,638,400 | ++++ | ++++ | + | ++++ | 20% | 20% | 76.0 | Classic | 11 | 0 | 9 | 2 | 0 | |
| 6 M | 43.3 | c.169C>T | p.Gln57* | A/B | 170.4 | 819,200 | 819,200 | ++++ | ++++ | ++++ | ++++ | 3% | 4% | 31.3 | yes | Classic | 45 | 17 | 4 | 6 | 18 |
| 7 M | 47.3 | c.847C>T | p.Gln283* | B | 156.2 | 819,200 | 819,200 | ++++ | ++++ | ++ | ++++ | 46% | 36% | 25.4 | Classic | 12 | 10 | 2 | 0 | 0 | |
| 8 M | 50.6 | c.802-3_802-2del | unknown | B | 16.0 | 204,800 | 204,800 | ++++ | ++ | +++ | ++++ | 98% | 76% | na | Classic | 38 | 18 | 5 | 7 | 8 | |
| 9 M | 32.7 | c.884T>G | p.Phe295Cys | B | 46.6 | 102,400 | 102,400 | ++++ | no | no | no | mig | mig | 10.0 | yes | Classic | 29 | 0 | 2 | 9 | 18 |
| 10 M | 59.1 | c.758T>C | p.Ile253Thr | A | 7.8 | 102,400 | 102,400 | ++++ | no | ++ | ++ | 75% | 61% | 10.8 | Non classic | 23 | 13 | 1 | 1 | 8 | |
| 11 M | 17.5 | c.902G>A | p.Arg301Gln | B | 5.1 | 102,400 | 102,400 | ++++ | ++ | + | ++++ | 40% | 29% | NA | Classic | 14 | 0 | 6 | 8 | 0 | |
| 12 M | 27.7 | c.901C>T | p.Arg301* | A/B | 69.3 | 25,600 | 12,800 | +++ | +++ | ++ | ++++ | 54% | 38% | 48.8 | Classic | 19 | 2 | 6 | 11 | 0 | |
| 13 M | 52.1 | c.798T>A | p.Asp266Glu | A/B | 116.1 | 12,800 | 12,800 | ++++ | ++ | ++ | no | 99% | 103% | na | yes | Classic | 34 | 0 | 8 | 8 | 18 |
| 14 M | 49.8 | c.847C>T | p.Gln283* | B | 133.5 | 1600 | 1600 | ++++ | + | + | no | 144% | 115% | 84.2 | yes | Classic | 31 | 7 | 4 | 2 | 18 |
| 15 M | 41.1 | c.1069_1079del | p.Gln357Trpfs*14 | A/B | 146.3 | 800 | 800 | no | no | +++ | ++++ | 142% | 100% | 18.9 | Classic | 24 | 2 | 9 | 5 | 8 | |
| 16 M | 31.9 | c.875C>T | p.Ala292Val | A | 135.7 | 800 | 800 | +++ | no | ++ | ++++ | 114% | 93% | 15.0 | Classic | 8 | 3 | 2 | 3 | 0 | |
| 17 M | 51.0 | c.798T>A | p.Asp266Glu | A | 120.5 | 400 | 400 | + | no | no | no | 136% | 106% | na | yes | Classic | 33 | 0 | 5 | 10 | 18 |
| 18 M | 27.9 | c.729G>C | p.Leu243Phe | A/B | 151.0 | 100 | 100 | no | no | ++ | no | 141% | 110% | na | Classic | 18 | 0 | 4 | 14 | 0 | |
| 19F | 65.3 | c.695T>C | p.Ile232Thr | A | 1.8 | 6400 | 6400 | no | no | + | no | 120% | 110% | 1.5 | NA | 19 | 15 | 4 | 0 | 0 | |
| 20F | 43.2 | c.486G>C | p.Trp162Cys | B | 10.2 | 12,800 | 50 | + | no | no | no | 126% | 113% | 4.3 | NA | 13 | 0 | 1 | 8 | 4 | |
RRA was considered not informative in the patient #9 under migalastat (mig)
M males, F female, A agalsidase alfa, B agalsidase beta, na not available, NA not applicable; Ab titers observed against agalsidase alfa (ag. alfa) or beta (ag. beta); Renal event defined as estimated glomerular filtration rate below 15 ml/min/1.73m2 and/or kidney transplant and/or dialysis; MSSI Mainz Severity Score Index with total, cardiovascular (cardio-vasc), general, neurological (neuro) and renal scores
*Non-sense mutations