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Fischer, A., Landais, P., Friedrich, W., Gerritsen, B., Fasth, A., Porta, F., Vellodi, A., Benkerrou, M., Jais, J.P., Cavazzana-Calvo, M., Souillet, G., Bordigoni, P., Morgan, G., Van Dijken, P., Vossen, J., Locatelli. F. and di Bartolomeo, P. (1994) Bone marrow transplantation (BMT) in Europore primary immunodeficiencies other than severe combined immunodeficiency: A report from the European group for BMT and the European group for immunodeficiency. Blood, 183, 149-154.

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.