RESUMEN
PNP deficiency is an autosomal recessive metabolic disorder characterized by severe combined immunodeficiency and by complex neurological symptomatology including ataxia, developmental delay and spasticity. Patients usually die in the first or second decade of life due to recurrent infections. The only curative treatment is bone marrow transplantation (BMT). We describe a 22-month-old girl who underwent BMT from her HLA-identical brother. Conditioning consisted of busulfan and fludarabine only, resulting in low toxicity and prompt engraftment. At 18 months after BMT, the girl has developed normal immunological functions, and her neurological status has improved.
Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Trasplante de Médula Ósea , Errores Innatos del Metabolismo/terapia , Purina-Nucleósido Fosforilasa/deficiencia , Vidarabina/análogos & derivados , Protocolos de Quimioterapia Combinada Antineoplásica/toxicidad , Busulfano/administración & dosificación , Busulfano/toxicidad , Salud de la Familia , Femenino , Supervivencia de Injerto , Humanos , Inmunofenotipificación , Lactante , Activación de Linfocitos/efectos de los fármacos , Errores Innatos del Metabolismo/diagnóstico , Errores Innatos del Metabolismo/enzimología , Embarazo , Purina-Nucleósido Fosforilasa/sangre , Linfocitos T/citología , Acondicionamiento Pretrasplante/métodos , Acondicionamiento Pretrasplante/normas , Trasplante Isogénico , Vidarabina/administración & dosificación , Vidarabina/toxicidadRESUMEN
A 12-year-old boy treated for SCID at 1 month of age by HLA-haploidentical BMT developed a lymphoproliferative disease of unknown etiology at the age of 9 years characterized by sustained, marked elevation of circulating CD8+ donor T cells and by diffuse infiltration of the liver by CD8+ T cells. Because of progressive liver disease, the patient underwent a second BMT from a younger HLA-matched sister. This treatment induced an effective graft-versus-graft reaction and led to complete replacement of the HLA-nonidentical, dysfunctional T cell system, resolution of the hepatopathy and full reconstitution of T and B cell functions.