Table 1.
Synopsis of demographic, genetic and therapeutic data
| Patient/ Gender | Genotype* | CRIM-Status | Age at symptom onset (months) | Age at diagnosis (months) | Age at start of ERT (months) | Dosage at start of ERT | Age at dose increase to 20mg/kg ew (months) | Age at dose increase to 40mg/kg ew (months) | Current ERT dosage | Anti-rh GAA anti-bodies at last visit | Immuno-modu-lation | Severe IAR |
| 1/ f | c.(1030G>A), (1551+1G>C) | NA | 3.5 | 5 | 7 | 1 | 31 | 2 | NA | No | No | |
| 2/ m | c.(307T>G), (307T>G) | + | 3 | 5 | 6 | 2 | 12 | 18 | 3 | Neg | Yes | No |
| 3/ m | c.(1798C>T), (1798C>T) | + | 5 | 20 | 20 | 1 | 25 | 2 | Neg | No | No | |
| 4/ f | c.(525del), (670C>T) | + | 0.5 | 1.5 | 2 | 1 | 68 | 3 | 1:3200 | Yes | Yes | |
| 5/ m | c.(784G>A), (1933G>A) | + | 0 | 3 | 4 | 1 | 11 | 2 | Neg | No | No | |
| 6/ m | c.(896T>C), (896T>C) | + | 0 | 1.5 | 2.5 | 3 | 48.5 | 3 | NA | No | No | |
| 7/ m | c.(1548G>A), (1557G>A) | + | 5 | 5 | 5.5 | 1 | 28.5 | 3 | Neg | No | No | |
| 8/ m | c.(1548G>A), (1844G>A) | + | 1 | 2 | 2 | 1 | 1 | <1:100 | No | No | ||
| 9/ m | c.(896T>C), (896T>C) | + | 0 | 1 | 1.5 | 1 | 51 | 3 | Neg | No | Yes | |
| 10/ f | c.(307T>G), (1655T>C) | + | 4 | 31 | 31 | 1 | 79 | 3 | Neg | No | No | |
| 11/ m | c.(207dupA), (2078dupA) | – | 4 | 4.5 | 5 | 1 | 55 | 124 | 3 | Neg | No | No |
| 12/ f | c.(IVS07A>G), (IVS07A>G) | + | 2 | 3 | 4 | 1 | 1 | Neg | No | No | ||
| 13/ f | c.(784G>A), (1507del) | + | 1 | 6 | 6 | 2 | 1 | 1:12800 | Yes | No | ||
| 14/ f | c.(1799G>A), (2481+102 _2646+31del) | + | 0.5 | 3 | 5 | 1 | 37 | 2 | NA | No | No | |
| 15/ m | c.(IVS17+102 _IVS18+31), (1465G>T) | + | 0.5 | 9 | 13 | 1 | 1 | NA | No | No |
*NM_000152.5 was used as a reference sequence for GAA mRNA, + = CRIM-positive; – = CRIM-negative; dosage of ERT: 1 = 20 mg/kg biweekly, 2 = 20 mg/kg weekly, 3 = 40 mg/kg weekly; Neg = negative; NA = not available; IAR, infusion associated reaction.