Table 1. Patient characteristics and treatment.

All patients received allogeneic stem cell transplant (HSCT) from haploidentical (haplo) parent donor once or repeated (booster). IL2RG, interleukin 2 receptor γ; CFU, colony-forming units; PLE, protein-losing enteropathy; IVIG, intravenous immunoglobulin; AUC, area under the curve.

P1P2P3P4P5
IL2RG mutation823T>G447 deIA923C>Ac341G>A31T>A
Age (years)232271510
Prior HSCTHaplo, boosterHaploHaplo, boosterHaploHaplo, booster
Immunophenotype↓ T, B, NK↓ B, NK↓ T, B, NK↓ T, B, NK↓ T, B, NK
Medical problemsNorovirus, infections,
PLE, IVIG
Norovirus, infections,
IVIG, warts, molluscum,
bronchiectasis, bronchiolitis
obliterans
Norovirus, infections,
PLE, IVIG, bronchiectasis,
growth failure
Norovirus, infections,
PLE, IVIG, bronchiectasis
Norovirus, PLE,
IVIG, molluscum,
bronchiectasis
Busulfan AUC (min*∗μM)3603.14528.92519.64523.63096.6
CD34+ cells infused (×106/kg)181620.421.725
Bulk CD34 in vitro CFU (%)27172257.736.1
Follow-up (months)3624633
Current statusCleared norovirus,
off IVIG
Cleared norovirus,
off IgG supplement,
fatal bronchial bleed
StableStableStable