European Journal of Pediatrics

, Volume 169, Issue 3, pp 311–314

Purine nucleoside phosphorylase deficiency with fatal course in two sisters

  • Caner Aytekin
  • Figen Dogu
  • Gonul Tanir
  • Deniz Guloglu
  • Ines Santisteban
  • Michael S. Hershfield
  • Aydan Ikinciogullari
Original Paper

DOI: 10.1007/s00431-009-1029-6

Cite this article as:
Aytekin, C., Dogu, F., Tanir, G. et al. Eur J Pediatr (2010) 169: 311. doi:10.1007/s00431-009-1029-6

Abstract

Purine nucleoside phosphorylase (PNP) deficiency is a rare combined immunodeficiency disorder presenting with clinically recurrent infections, failure to thrive, various neurological disorders, malignancies, and autoimmune diseases. Here, we report two sisters with a fatal course of PNP deficiency due to delay in diagnosis. The first patient developed a liver abscess by Aspergillus fumigatus and the second patient developed Mycobacterium tuberculosis complex lymphadenitis and probable pulmonary tuberculosis due to disseminated BCG infection. The patients also suffered from sclerosing cholangitis. Mutation analysis of the PNP gene from both sisters revealed a homozygous mutation for a G>A at nucleotide 349 (349 G>A transition), which changes alanine 117 to theronine in exon 4 (A117T). An increased awareness of early signs, symptoms, and abnormal laboratory findings of PNP deficiency will establish the early prognosis and treatment.

Keywords

Purine nucleoside phosphorylase deficiencyAspergillus fumigatusTuberculosisSclerosing cholangitis

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Caner Aytekin
    • 1
  • Figen Dogu
    • 2
  • Gonul Tanir
    • 1
  • Deniz Guloglu
    • 2
  • Ines Santisteban
    • 3
  • Michael S. Hershfield
    • 3
  • Aydan Ikinciogullari
    • 2
  1. 1.Dr. Sami Ulus Children’s Health and Diseases Training and Research CenterAnkaraTurkey
  2. 2.Department of Pediatric Immunology and AllergyAnkara University School of MedicineAnkaraTurkey
  3. 3.Department of MedicineDuke University Medical CenterDurhamUSA