Τίτλος:
Successful HLA-identical hematopoietic stem cell transplantation in a
patient with purine nucleoside phosphorylase deficiency
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Delicou, Sophia
Kitra-Roussou, Vassiliki
Peristeri, Julia and
Goussetis, Eugenios
Vessalas, George
Rigatou, Eftymia and
Psychou, Fotini
Salavoura, Katerina
Grafakos, Stelios
Περιοδικό:
Pediatric Transplantation
Εκδότης:
Blackwell Publishing Inc.
Λέξεις-κλειδιά:
purine nucleoside phosphorylase deficiency; hematopoietic stem cell
transplantation; refractory hemolytic anemia
DOI:
10.1111/j.1399-3046.2007.00772.x
