Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency.
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.
Delicou
Sophia
S
Bone Marrow Transplantation Unit, Athens University Medical School, St Sophia Children's Hospital, Athens, Greece. sophiadelicou@gmail.com
Kitra-Roussou
Vassiliki
V
Peristeri
Julia
J
Goussetis
Eugenios
E
Vessalas
George
G
Rigatou
Eftymia
E
Psychou
Fotini
F
Salavoura
Katerina
K
Grafakos
Stelios
S
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
D006680:HLA Antigens; D011683:Purine-Nucleoside Phosphorylase