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Successful HLA‐identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency
Author(s) -
Delicou Sophia,
KitraRoussou Vassiliki,
Peristeri Julia,
Goussetis Eugenios,
Vessalas George,
Rigatou Eftymia,
Psychou Fotini,
Salavoura Katerina,
Grafakos Stelios
Publication year - 2007
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2007.00772.x
Subject(s) - medicine , purine nucleoside phosphorylase , immunology , hematopoietic stem cell transplantation , autoimmune hemolytic anemia , immunodeficiency , transplantation , anemia , purine , immune system , biology , biochemistry , enzyme
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.