Characteristics of all patients
| MC status/ patient no. . | Mutation . | Year of HST . | Age at HST . | Nucleated cells transplanted, no. . | Donor/ transplant type* . | HLA compatibility . | Conditioning regimen . | GVHD prophylaxis . | Acute GVHD grade . | Chronic GVHD . |
|---|---|---|---|---|---|---|---|---|---|---|
| With MC status after HST | ||||||||||
| 1 | 1 base deletion exon 9† | 2001 | 4 mo | 7.5 × 108 | U/CBT | 5/6 matched | TBI, BuCy, ATG | CsA, Mtx | 0 | No |
| 2 | Missense exon 4 (Ala134-Val) | 2000 | 1 y 2 mo | 1.42 × 108 | U/CBT | 5/6 matched | TBI, Cy, ATG | Mtx, FK506 | 1 | No |
| 3 | 1 base deletion exon/intron 11; abnormal splice skip exon 11 | 1999 | 1 y 2 mo | 8.9 × 108 | R/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| 4 | 1 base deletion exon 10† | 2001 | 2 y | 2.45 × 108 | U/BMT | 6/6 matched | TBI, BuCy, ATG | Mtx, FK506 | 0 | No |
| 5 | Large deletion | 1999 | 1 y 7 mo | 4.8 × 108 | U/BMT | 5/6 matched | TBI, Cy, ATG | Mtx, FK506 | 0 | Yes |
| 6 | Nonsense exon 7 (Arg211-stop)‡ | 1998 | 1 y 1 mo | 3.34 × 109 | U/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| Without MC status after HST | ||||||||||
| 7 | 2 bases deletion exon 1 | 2000 | 9 mo | 8.8 × 108 | U/CBT | 5/6 matched | TBI, BuCy, ATG | CsA, PDN | 1 | No |
| 8 | Missense exon 2 (Ile85-Thr)‡ | 2000 | 4 y 7 mo | 4.2 × 108 | U/BMT | 6/6 matched | TBI, BuCy, ATG | Mtx, FK506 | 3 | Yes |
| 9 | Missense exon 1 (Glu31-Lys)‡ | 1998 | 1 y 3 mo | 7.0 × 108 | U/CBT | 6/6 matched | BuCy | CsA, Mtx | 1 | Yes |
| 10 | Missense exon 1 (Glu31-Lys)‡ | 1996 | 1 y 7 mo | 8.9 × 108 | R/BMT | Compatible | BuCy | CsA, Mtx | 0 | No |
| 11 | 1 base deletion exon 1‡ | 1995 | 4 y 3 mo | 8.5 × 109 | R/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| 12 | 2 bases deletion exon 1 | 2001 | 7 mo | 2.9 × 108 | U/CBT | 6/6 matched | BuCy, ATG | CsA, PDN | 0 | No |
| MC status/ patient no. . | Mutation . | Year of HST . | Age at HST . | Nucleated cells transplanted, no. . | Donor/ transplant type* . | HLA compatibility . | Conditioning regimen . | GVHD prophylaxis . | Acute GVHD grade . | Chronic GVHD . |
|---|---|---|---|---|---|---|---|---|---|---|
| With MC status after HST | ||||||||||
| 1 | 1 base deletion exon 9† | 2001 | 4 mo | 7.5 × 108 | U/CBT | 5/6 matched | TBI, BuCy, ATG | CsA, Mtx | 0 | No |
| 2 | Missense exon 4 (Ala134-Val) | 2000 | 1 y 2 mo | 1.42 × 108 | U/CBT | 5/6 matched | TBI, Cy, ATG | Mtx, FK506 | 1 | No |
| 3 | 1 base deletion exon/intron 11; abnormal splice skip exon 11 | 1999 | 1 y 2 mo | 8.9 × 108 | R/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| 4 | 1 base deletion exon 10† | 2001 | 2 y | 2.45 × 108 | U/BMT | 6/6 matched | TBI, BuCy, ATG | Mtx, FK506 | 0 | No |
| 5 | Large deletion | 1999 | 1 y 7 mo | 4.8 × 108 | U/BMT | 5/6 matched | TBI, Cy, ATG | Mtx, FK506 | 0 | Yes |
| 6 | Nonsense exon 7 (Arg211-stop)‡ | 1998 | 1 y 1 mo | 3.34 × 109 | U/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| Without MC status after HST | ||||||||||
| 7 | 2 bases deletion exon 1 | 2000 | 9 mo | 8.8 × 108 | U/CBT | 5/6 matched | TBI, BuCy, ATG | CsA, PDN | 1 | No |
| 8 | Missense exon 2 (Ile85-Thr)‡ | 2000 | 4 y 7 mo | 4.2 × 108 | U/BMT | 6/6 matched | TBI, BuCy, ATG | Mtx, FK506 | 3 | Yes |
| 9 | Missense exon 1 (Glu31-Lys)‡ | 1998 | 1 y 3 mo | 7.0 × 108 | U/CBT | 6/6 matched | BuCy | CsA, Mtx | 1 | Yes |
| 10 | Missense exon 1 (Glu31-Lys)‡ | 1996 | 1 y 7 mo | 8.9 × 108 | R/BMT | Compatible | BuCy | CsA, Mtx | 0 | No |
| 11 | 1 base deletion exon 1‡ | 1995 | 4 y 3 mo | 8.5 × 109 | R/BMT | 6/6 matched | BuCy, ATG | CsA, Mtx | 0 | No |
| 12 | 2 bases deletion exon 1 | 2001 | 7 mo | 2.9 × 108 | U/CBT | 6/6 matched | BuCy, ATG | CsA, PDN | 0 | No |
U indicates unrelated; TBI, total-body irradiation; Bu, busulfan; Cy, cyclophosphamide; ATG, antithymocyte globulin; CsA, cyclosporin A; Mtx, methotrexate; FK506, tacrolimus hydrate; R, related; and PDN, prednisone.
Related donors were noncarrier mother for patient 3, noncarrier sister for patient 10, and carrier mother for patient 11.
Novel mutation.
Mutation previously reported by us.