Article
Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections.
Journal of child neurology - 1 Jun 2007
Ozkinay Ferda, Pehlivan Sacide, Onay Huseyin, van den Berg Paul, Vardar Fadil, Koturoglu Guldane, Aksu Guzide, Unal Durisehvar, Tekgul Hasan, Can Sema, Ozkinay Cihangir
Abstract excerpt
Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disease. The characteristic features of the disease include severe T cell immune defects with recurrent infections, a failure to thrive, and progressive neurological findings. To date, 35 cases of purine nucleosidase phosphorylase deficiency have been reported worldwide. A 2-year-old female patient was hospitalized due to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.