Table 1 Study population
No. | Gender (m/f) | Year of birth | Age at HSCT (y) | Follow-up after HSCT (y) | Age at latest follow-up (y) | Chimerism at latest follow-up (%) | Genotype | |||
|---|---|---|---|---|---|---|---|---|---|---|
1. Allele (cDNA) | 1. Allele (Protein) | 2. Allele (cDNA) | 2. Allele (Protein) | |||||||
1 | f | 2010 | 2.0 | 0.7 | 2.7 | 99.9 | c.1205G > A | p.W402X | c.1205G > A | p.W402X |
2 | f | 2010 | 1.5 | 2.0 | 3.5 | 94 | c.606c > A | p.Y202X | c.979G > C | p.A327P |
3 | f | 2009 | 1.3 | 1.9 | 3.2 | 100 | n.a | n.a. | n.a. | n.a. |
4 | f | 2009 | 2.2 | 2.3 | 4.5 | 16.7 | c.208C > T | p.Q70X | c.1205G > A | p.W402X |
5 | m | 2008 | 1.8 | 4.2 | 6.0 | 99.9 | c.979G > C | p.A327P | c.1099G > C | p.A367P |
6 | m | 2008 | 1.5 | 3.2 | 4.7 | 98 | c.208C > T | p.Q70X | c.175delA (fs132X) | - |
7 | f | 2008 | 2.0 | 2.0 | 4.0 | 99.9 | c.208C > T | p.Q70X | c.208C > T | p.Q70X |
8 | m | 2008 | 1.5 | 4.6 | 6.0 | 59.3 | c.208C > T | p.Q70X | c.208C > T | p.Q70X |
9 | m | 2008 | 2.2 | 4.2 | 6.4 | 100 | c.208C > T | p.Q70X | c.1045_1047delGAC | p.D349del |
10 | f | 2007 | 1.2 | 5.7 | 6.9 | 99.9 | c.208C > T | p.Q70X | c.1413C > G | p.Y471X |
11 | f | 2007 | 1.6 | 5.0 | 6.6 | 99.9 | c.1205G > A | p.W402X | c.1205G > A | p.W402X |
12 | f | 2006 | 1.9 | 2.7 | 4.6 | 99.9 | c.917G > A | p.W306X | c.1727 + 5G > A | n.i. |
13 | m | 2005 | 1.5 | 7.8 | 9.3 | 99.9 | c.208C > T | p.Q70X | c.1205G > A | p.W402X |
14 | m | 2002 | 1.1 | 10.9 | 12.0 | 5.4 | c.1205G > A | p.W402X | c.1205G > A | p.W402X |
15a | m | 2002 | 1.1 | 10.3 | 11.4 | 0 | c.1205G > A | p.W402X | c.1205G > A | p.W402X |
16 | f | 2002 | 1.8 | 10.6 | 12.4 | 99.9 | c.979G > C | p.A327P | n.i. | n.i. |
17 | m | 1999 | 1.8 | 13.3 | 15.2 | 50.5 | c.208C > T | p.Q70X | c.979G > C | p.A327P |
18 | f | 1996 | 2.1 | 7.9 | 10.0 | 30 | n.d. | n.d. | n.d. | n.d. |
19 | m | 1990 | 1.2 | 22.5 | 23.8 | n.d. | c.1205G > A | p.W402X | c.1205G > A | p.W402X |