… The busulfan/fludarabine conditioning regimen used in our patient was … PNP deficiency
patients with an HLA-identical sibling donor, conditioning using busulfan and fludarabine …

… PNP deficiency patients typically have profound T-cell deficiency with variable B and NK cell
… stem cell transplantation (HSCT) is the only available cure for patients with PNP deficiency. …

… Her conditioning regimen consisted of busulfan (1 mg/kg/… donor (MSD) using treosulfan and
fludarabine (Table 2), and this is … at 6.5 months of age using fludarabine, treosulfan, thiotepa, …

… To achieve definitive cure of PNP deficiency, P1–P3 underwent allogeneic HSCT after
busulfan/fludarabine/alemtuzumab-based myeloablative conditioning from mismatched family or …

… of exposure-targeted iv busulfan given in 8 doses every 12 h, from day −6 to −3 (first day 4.9
mg/kg and then adjusted aiming for AUC day 0–4 90 ± 5 mg h/L), and fludarabine (40 mg/m …

… severe combined immunodeficiency (PNP SCID) is one of the … PNP SCID and present a
systematic literature review of published case reports, case series, and cohort studies on PNP …

… Although there are no systematic studies of genotype/phenotype correlation in PNP deficiency,
we hypothesize that the clinical spectrum of PNP deficiency is variable and not related to …

… Conditioning regiment consisted of busulfan 5 mg/kg po in … patients treated with the purine
analog and fludarabine. A number of key … and other metabolites in PNP deficiency. If this is the …

… experimental conditioning regimen with busulfan and fludarabine only. VOD is … PNP deficiency
patients with an HLA-identical sibling donor, conditioning using busulfan and fludarabine …

… Since the first edition of this book, several important advances concerning ADA and PNP
deficiency have been made that include both clinical and basic science of these disorders. ADA …