Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: Successful correction with umbilical cord blood transplantation

“…Stem cell transplantation is the only curative therapy for PNP-def, but there are published reports of only 11 PNP-def recipients of bone marrow transplantation. [1][2][3][14][15][16][17] Including this patient, 6 of 12 recipients are alive, with successful immune reconstitution. Supportive treatment, including intravenous immunoglobulin therapy, Pneumocystis carinii prophylaxis, and physical, occupational, and speech therapy, reduces the risk of infection and may encourage optimal neurologic development for patients with PNP-def while preparing for corrective stem cell transplantation.…”

An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication

“…PNP deficiency is a rare inherited disease accounting for approximately 4% of patients with SCID (3). Approximately 50 patients have been identified with PNP deficiency since the disorder was first reported in 1975 (4). PNP is an enzyme in the purine salvage pathway that reversibly converts inosine to hypoxanthine and guanosine to guanine (5).…”

Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency

“…After the engraftment, the patients develop full immunological function with normal T cells, and immune reconstitution, as our patient did. The neurological outcome of PNP patients after successful HSCT is limited as it has been described in the literature, although the patients develop a normal immune system (16, 17). Our patient showed no further deterioration, and gained remarkable neuromotor improvement.…”