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Pediatr Transplant ; 11(7): 799-803, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17910661

RESUMO

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.


Assuntos
Anemia/terapia , Antígenos HLA/imunologia , Transplante de Células-Tronco Hematopoéticas , Purina-Núcleosídeo Fosforilase/deficiência , Anemia/etiologia , Anemia/patologia , Biópsia , Pré-Escolar , Feminino , Humanos , Masculino , Irmãos , Doadores de Tecidos , Quimeras de Transplante , Condicionamento Pré-Transplante , Resultado do Tratamento
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