Patient characteristics
. | . | . | . | . | . | . | . | . | . | . | . | . | FU† . | . | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subgroup and UPN . | Sex . | SCID phenotype* . | SCID genotype* . | Age at HSCT, mo . | Donor . | TCD graft . | Conditioning . | GvHD prev . | aGvHD grade . | cGvHD grade . | Clinical status at late FU . | Infections at late FU . | Early . | Late . | |
| Good reconstitution | |||||||||||||||
| 17‡ | F | T-B+NK+/- | ? (AR) | 33 | IRD | Alb. gradient | — | — | — | — | — | Warts | 25.5 | ||
| 50‡ | F | T-B+NK- | ? (AR) | 18 | IRD | E-rosetting | TBI/CY | MTX | — | — | — | — | 1.5 | 18.3 | |
| 56 | F | T-B+NK- | ? (AR) | 9 | ORD | E-rosetting | CY | — | 2 | Extensive | Vasculitis | — | 1.5 | 17.4 | |
| 59 | M | T-B+NK+ | ? | 9 | ORD | E-rosetting | — | — | 2 | Extensive | — | — | 2.9 | 17.9 | |
| 96 | F | T-B-NK+/- | ADA | 8 | ORD | E-rosetting | BU/CY | CsA | 1 | — | Spastic dipl/retard | — | 1.0 | 15.1 | |
| 112 | M | T-B+NK- | γc (XL) | 5 | ORD | E-rosetting | BU/CY | CsA | 1 | Limited | — | — | 2.5 | 13.8 | |
| 199 | M | T-B+NK- | γc (XL) | 10 | ORD | E-rosetting | BU/CY | MTX | — | — | — | URTI/ENT | 1.6 | 8.5 | |
| 220 | F | T-B+NK- | ? (AR) | 18 | MUD | E-rosetting | BU/CY | MTX | — | — | — | — | 1.0 | 8.3 | |
| 221 | F | T-B+NK- | ? (AR) | 18 | MUD | E-rosetting | BU/CY | MTX | — | Limited | — | — | 1.0 | 8.3 | |
| 228 | M | T-B+NK- | γc (XL) | 7 | ORD | E-rosetting | BU/CY | CsA | — | — | — | — | 1.3 | 7.7 | |
| 304 | M | T-B+NK- | γc (XL) | 9 | ORD | E-rosetting | BU/CY | CsA/MTX | 2 | Limited | — | — | 1.7 | 6.1 | |
| Poor reconstitution | |||||||||||||||
| 2 | M | T-B+NK- | γc (XL) | 5 | IRD | Alb. gradient | — | — | — | — | Lymphedema | Warts/pneum | 3.9 | 32.2 | |
| 53‡ | M | T-B+NK+ | IL-7Rα | 12 | ORD | E-rosetting | CY | CsA | — | — | — | Warts | 1.6 | 16.9 | |
| 108 | M | T-B+NK+ | ? (AR) | 10 | ORD | E-rosetting | BU/CY | CsA | — | — | — | Resp tract | 1.0 | 13.8 | |
| 131 | M | T-B-NK+/- | ADA | 1 | IRD | No | BU/CY | CsA | — | — | — | — | 1.7 | 11.9 | |
| 168 | F | T-B-NK+ | Artemis | 8 | ORD | E-rosetting | BU/CY | CsA | — | — | Spastic dipl | — | 3.5 | 10.3 | |
| 183 | F | T-B-NK+ | RAG1-2 | 4 | ORD | E-rosetting | BU/CY | CsA | — | — | — | — | 1.0 | 6.3 | |
| 242 | M | T-B-NK+/- | ADA | 1 | IRD | No | — | CsA | — | — | Learning problems | — | 1.4 | 7.2 | |
| 306 | M | T-B-NK+ | RAG1-2 | 2 | IRD | No | — | — | 2 | Limited | — | — | 1.3 | 5.0 | |
. | . | . | . | . | . | . | . | . | . | . | . | . | FU† . | . | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subgroup and UPN . | Sex . | SCID phenotype* . | SCID genotype* . | Age at HSCT, mo . | Donor . | TCD graft . | Conditioning . | GvHD prev . | aGvHD grade . | cGvHD grade . | Clinical status at late FU . | Infections at late FU . | Early . | Late . | |
| Good reconstitution | |||||||||||||||
| 17‡ | F | T-B+NK+/- | ? (AR) | 33 | IRD | Alb. gradient | — | — | — | — | — | Warts | 25.5 | ||
| 50‡ | F | T-B+NK- | ? (AR) | 18 | IRD | E-rosetting | TBI/CY | MTX | — | — | — | — | 1.5 | 18.3 | |
| 56 | F | T-B+NK- | ? (AR) | 9 | ORD | E-rosetting | CY | — | 2 | Extensive | Vasculitis | — | 1.5 | 17.4 | |
| 59 | M | T-B+NK+ | ? | 9 | ORD | E-rosetting | — | — | 2 | Extensive | — | — | 2.9 | 17.9 | |
| 96 | F | T-B-NK+/- | ADA | 8 | ORD | E-rosetting | BU/CY | CsA | 1 | — | Spastic dipl/retard | — | 1.0 | 15.1 | |
| 112 | M | T-B+NK- | γc (XL) | 5 | ORD | E-rosetting | BU/CY | CsA | 1 | Limited | — | — | 2.5 | 13.8 | |
| 199 | M | T-B+NK- | γc (XL) | 10 | ORD | E-rosetting | BU/CY | MTX | — | — | — | URTI/ENT | 1.6 | 8.5 | |
| 220 | F | T-B+NK- | ? (AR) | 18 | MUD | E-rosetting | BU/CY | MTX | — | — | — | — | 1.0 | 8.3 | |
| 221 | F | T-B+NK- | ? (AR) | 18 | MUD | E-rosetting | BU/CY | MTX | — | Limited | — | — | 1.0 | 8.3 | |
| 228 | M | T-B+NK- | γc (XL) | 7 | ORD | E-rosetting | BU/CY | CsA | — | — | — | — | 1.3 | 7.7 | |
| 304 | M | T-B+NK- | γc (XL) | 9 | ORD | E-rosetting | BU/CY | CsA/MTX | 2 | Limited | — | — | 1.7 | 6.1 | |
| Poor reconstitution | |||||||||||||||
| 2 | M | T-B+NK- | γc (XL) | 5 | IRD | Alb. gradient | — | — | — | — | Lymphedema | Warts/pneum | 3.9 | 32.2 | |
| 53‡ | M | T-B+NK+ | IL-7Rα | 12 | ORD | E-rosetting | CY | CsA | — | — | — | Warts | 1.6 | 16.9 | |
| 108 | M | T-B+NK+ | ? (AR) | 10 | ORD | E-rosetting | BU/CY | CsA | — | — | — | Resp tract | 1.0 | 13.8 | |
| 131 | M | T-B-NK+/- | ADA | 1 | IRD | No | BU/CY | CsA | — | — | — | — | 1.7 | 11.9 | |
| 168 | F | T-B-NK+ | Artemis | 8 | ORD | E-rosetting | BU/CY | CsA | — | — | Spastic dipl | — | 3.5 | 10.3 | |
| 183 | F | T-B-NK+ | RAG1-2 | 4 | ORD | E-rosetting | BU/CY | CsA | — | — | — | — | 1.0 | 6.3 | |
| 242 | M | T-B-NK+/- | ADA | 1 | IRD | No | — | CsA | — | — | Learning problems | — | 1.4 | 7.2 | |
| 306 | M | T-B-NK+ | RAG1-2 | 2 | IRD | No | — | — | 2 | Limited | — | — | 1.3 | 5.0 | |
UPN indicates unique personal number; FU, follow-up; SCID genotype ?, unknown; AR, autosomal recessive; IRD, HLA-identical family donor; Alb, albumin; E-rosetting, rosetting of T cells to sheep erythrocytes; TBI, total body irradiation; CY, cyclophosphamide; MTX, methotrexate; ORD, haploidentical family donor; ADA, adenosine deaminase deficiency; BU, busulphan; CsA, cyclosporin A; spastic dipl, spastic diplegia; retard, retardation; γc, common γ chain deficiency; XL, X-chromosome linked; URTI, upper respiratory tract infections; ENT, ear, nose, and throat infections; MUD, matched unrelated donor; pneum, pneumonia; IL-7Rα, IL-7 receptor α chain deficiency; resp tract, respiratory tract; Artemis, DNA-repair defect resulting from mutations in the Artemis gene; RAG1-2, recombinase-activating gene (RAG1 or RAG2) deficiency. — indicates no complaints with respect to clinical status; no with respect to conditioning, GVHD prevention, and infections; and absent with respect to aGVHD and cGVHD.
Data in parentheses indicate the way of inheritance.
Early and late are given in years after HSCT.
Patients who received transplants twice.