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Classen, C.F., Schulz, A.S., Sigl-Kraetzig, M., Hoffmann, G.F., Simmonds, H.A., Fairbanks, L., Debatin, K.M. and Friedrich, W. (2001) Successful HLA-identical bone marrow transplantation in a patient with PNP deficiency using busulfan and fludarabine for conditioning. Bone Marrow Transplantation, 28, 93-96. doi:10.1038/sj.bmt.1703100

has been cited by the following article:

• TITLE: Case of purine nucleoside phosphorylase deficiency presented with hematuria

  AUTHORS: Saniye Girit, Ferah Genel, Demet Can, Mustafa Bak, Michael Hershfield

  KEYWORDS: Purine Nucleoside Phosphorylase Deficiency; Infant; Hematuria

  JOURNAL NAME: Open Journal of Pediatrics, Vol.2 No.4, December 7, 2012

  ABSTRACT: Purine Nucleoside Phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder. In PNP-deficiency disorder, the deficient enzyme leads to accumulation of toxic metabolites, especially in lymphocytes and the metabolites exert toxic effect on T-cell generation. Purine nucleoside phosphorylase deficiency causes decreased numbers of T cells and lymphopenia. The patients suffering from PNP-deficiency may be admitted with recurrent infections, as well as neurological and autoimmune findings. We hereby presented a case admitted with the symptom of hematuria in which we established the diagnosis of PNP-deficiency early on the basis of detection of lymphopenia and low level of uric acid.