Patient ID/gender | Genotype | Predicted mutations severitya | CRIM | Age of onset signs and symptomsb | Age diagnosisb | Age starting ERTb | Anti-rh GGA antibodies maximum titer | Immunomodulation | Severe IAR | ERT present or last dosing |
---|---|---|---|---|---|---|---|---|---|---|
1/M | NA | – | NA | 1 | 1 | 2 | NA | No | No | 1 |
2/F | NA | – | NA | 2 | 4 | 4 | NA | No | Yes | 1 |
3/F | c.[1833_1839del;1846G > T; 1847_1848insT]; [c1124G > T] | Very severe/potentially less severe | P(E) | 1 | 5 | 5 | NA | No | No | 1 |
4/M | NA | – | NA | 3 | 4 | 4 | NA | No | No | 1 |
5/F | c.[236_246 del];. [236_246 del] | Very severe | Neg (E) | 1 | 1 | 2 | 1:25.600 | No | Yes | 1 |
6/F | c.[742delC];[c.896 T > C] | Very severe/potentially less severe | P(E) | 4 | 6 | 10 | NA | No | No | 1 |
7/F | c.[2481 + 102_2646 + 31del]; [2481 + 102_2646 + 31del] | Very severe | Neg(E) | 6 | 8 | 8 | NA | No | No | 1 |
8/F | c.[525delT];[c.670C > T] | Very severe/potentially less severe | P(E) | 1 | 9 | 10 | NA | No | No | 1 |
9/M | c.[1497G > A];[1497G > A] | Very severe | Neg | birth | 5 days | 1 | 1:102.400 | No | No | 1 |
10/M | c.[1833_1839del;1846G > T; 1847_1848insT]; [1833_1839del;1846G > T; 1847_1848insT] | Very severe | Neg (E) | 2 | 7 | 7 | 1:25.600 | Yes 14 m [7] | Yes | 1 |
11/M | c.[1942G > A]; [2646 + 2 T > A] | Potentially less severe/very severe | P(E) | birth | 12 days | 19 days | NA | No | No | 1 |
12/M | c.[236_246del]; [1655 T > C] | Very severe/potentially less severe | P(E) | 2 | 3 | 4 | NA | No | Yes | 1 |
13/F | c.[236_246del];[1927G > A] | Very severe/potentially less severe | P | 6 | 11 | 11 | NA | No | No | 5c |
14/M | c.[236-246del]; [236-246del] | Very severe | Neg | 4 | 4 | 4 | 1:204.800 | Yes prophylactic and later 1Â cycle therapeutic [8] | Yes | 1 |
15/F | c.[955 + 1G > A]; [1438-2A > G] | Unknown/very severe | NA | birth | 5 days | 8 days | ≤ 1:400 | No | No | 1 |
16/M | c.[525delT]; [2237G > A] | Very severe | Neg (E) | birth | 3 | 4 | 1:102.400 | Yes 4 cycles at 1–2–3-4 years [8] | Yes | 6c |
17/M | c.[1A > G];[1A > G] | Very severe | Neg(E) | 2 | 6 | 6 | ________NA | No | No | 1 |
18/M | c.[784G > A]; [784G > A] | Potentially less severe | P | 1 | 1.5 | 4 | ≤ 1:400 | No | No | 4c |
19/M | c.[1802C > G]; [2800-1G > C] | Potentially less severe/unknown | P(E) | 10 days | 3 | 3 | ≤ 1:400 | No | No | 2c |
20/F | c.[1564C > G];[1564C > G] | Potentially less severe | P(E) | 4 | 4 | 5 | 1:1.600 | No | No | 1 |
21/F | c.[930_932delGTT];[1927G > A] | Unknown/ Potentially less severe | P(E) | birth | 19 days | 1 | NA | No | Yes | 7 c |
22/F | c. [1927G > A];[1927G > A] | Potentially less severe | P(E) | 4 | 4 | 5 | NA | No | No | 1 |
23/F | c.[1933 G > A];[1933 G > A] | Potentially less severe | P(E) | birth | 1 | 1 | NA | No | No | 1 |
24/F | c.[1933G > A]; [1564C > G] | Potentially less severe/potentially less severe | P(E) | 2 | 3 | 4 | NA | No | No | 1 |
25/F | c.[784G > A]; [1822C > T] | Potentially less severe/very severe | P | 2 | 3 | 4 | ≤ 1:400 | No | No | 2c |
26/F | c.[1064 T > C]; [2041-2A > C] | Potentially less severe/very severe | P(E) | 3 | 5 | 8 | ≤ 1:400 | No | No | 3c |
27/M | c.[1465G > A];[40_47del8] | potentially less severe/unknown | P(E) | birth | 3 | 4 | ≤ 1:400 | No | No | 2d |
28/M | c.[2237G > A];[1655 T > C] | Very severe/potentially less severe | P(E) | 2 | 4 | 9 | 1:3200 | No | Yes | 2d |