title: Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.
abstract: PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency, autoimmune hemolytic anemia, and by a complex of neurologic manifestations including ataxia, developmental delay, and spasticity. PNP protein catalyzes the phosphorolysis of deoxyinosine and deoxyguanosine. It is found in most tissues of the body but is expressed at the highest levels in lymphoid tissues. This tissue distribution explains why the lymphoid system is predominantly affected in PNP deficiency. We describe a five-yr-old boy with muscular hypertonia, impaired growth, autoimmune hemolytic anemia, and neutropenia who underwent HSCT from his HLA-identical sister. One yr post-HSCT, the boy developed normal immunological functions, and his neurological status improved.
authors.affiliation: Bone Marrow Transplantation Unit, Athens University Medical School, St Sophia Children's Hospital, Athens, Greece. sophiadelicou@gmail.com
authors.forename: Sophia
authors.initials: S
authors.lastname: Delicou
authors.forename: Vassiliki
authors.initials: V
authors.lastname: Kitra-Roussou
authors.forename: Julia
authors.initials: J
authors.lastname: Peristeri
authors.forename: Eugenios
authors.initials: E
authors.lastname: Goussetis
authors.forename: George
authors.initials: G
authors.lastname: Vessalas
authors.forename: Eftymia
authors.initials: E
authors.lastname: Rigatou
authors.forename: Fotini
authors.initials: F
authors.lastname: Psychou
authors.forename: Katerina
authors.initials: K
authors.lastname: Salavoura
authors.forename: Stelios
authors.initials: S
authors.lastname: Grafakos
mesh_terms: D000740:Anemia / Q000209:etiology / Q000473:pathology / Q000628:therapy*; D001706:Biopsy; D002675:Child, Preschool; D005260:Female; D006680:HLA Antigens / Q000276:immunology*; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D035781:Siblings; D014019:Tissue Donors; D018183:Transplantation Chimera; D019172:Transplantation Conditioning; D016896:Treatment Outcome
chemical_list: D006680:HLA Antigens; D011683:Purine-Nucleoside Phosphorylase