Table 1.
Clinical and Laboratory Features
| Clinical data | Pt 8A | Pt 8B | Pt 9 | Pt 10 | Pt 11 |
|---|---|---|---|---|---|
| Age at onset | 1 month | At birth | At birth | At birth | 2 months |
| Bone fractures | multiple | no | multiple | one | no |
| Neurological defects | Blindness (10 mo) | No visual impairment (5 mo) | Congenital blindness | Blindness (22 mo) | |
| Hydrocephalus | Blindness (2 mo) | ||||
| Additional multiple defects | Hydrocephalus | ||||
| Chiari type 1 malformation | |||||
| Hepatosplenomegaly | important | no | mild | no | mild |
| Other features | Gastrooesophageal reflux | Asymptomatic hypocalcemia | Huge skull deformation | Neonatal hypocalcaemia and respiratory acidosis | Gastrooesophageal reflux |
| Gastrooesophageal reflux | Lactose intolerance | ||||
| Hb (g/dL) | 9.1 | 8.7 | 10.7 | 8.4 | 9 |
| Plt (×109/L) | 259 | 283 | 155 | 195 | 290 |
| IgG (mg/dL) | 197 (335–623) | 261 (235–437) | 1140 (470–1550) | 309 (240–880) | 279 (240–880) |
| IgM (mg/dL) | 49 (48–136) | 86 (34–95) | 121 (40–280) | 20 (10–50) | 18 (10–50) |
| IgA (mg/dL) | <6 (27–86) | 7 (2–62) | 86 (21–321) | 37 (20–100) | 38 (20–100) |
| Age at HSCT | 21 months | 5 months | 12 years | 3 years | 11 months |
| HSC origin | Peripheral blood | Bone marrow | Bone marrow | Bone marrow | Bone marrow |
| Donor | MUD | MRD | MRD | MUD | MRD |
| T cell depletion | no T-cell depletion | no T-cell depletion | no T-cell depletion | T-cell depletion | no T-cell depletion |
| Engraftment (% donor chimerism) | Yes (100% donor) | Yes (95% donor) | Yes (100% donor) | Yes (100% donor) | Yes (100% donor) |
| Bone remodeling | Improved | Ongoing | Improved | Ongoing | Improved |
| Outcome | Alive and well 14 months post-HSCT | Alive and well 3.5 months post-HSCT | Alive and well 15 months post-HSCT | Alive and well 4 months post-HSCT | Alive and well 3 years post-HSCT |
| Follow-up | Severe hypercalcemia | Moderate hypercalcemia | Severe hypercalcemia | Severe hypercalcemia | Mild hypercalcemia |
| Left tibia fracture | No fractures | Bone fractures | Nephrocalcinosis | No fractures | |
| Nephrocalcinosis | Acute respiratory distress syndrome | Nephrocalcinosis, GvHD | Respiratory distress | Eosinophilc enterocolitis |
Ig levels reported in brackets are normal values for age-matched healthy controls.
All the laboratory data reported refer to the time of the first diagnosis, with the exception of Pt 9.
MUD: matched unrelated donor.
MRD: matched related donor.