The First Report of a Pregnancy in a Patient with Purine Nucleoside Phosphorylase Deficiency

Fetal Pediatr Pathol. 2016;35(2):120-3. doi: 10.3109/15513815.2016.1139020. Epub 2016 Feb 16.

Abstract

Background: The cause of primary immunodeficiency has expanded to nearly 200 distinct disorders. An improved understanding of these disorders has resulted in decreased morbidity and mortality with reciprocal improved life expectancy. Obstetricians should have knowledge of primary immunodeficiency, as more women with these disorders will reach reproductive age.

Case: 21-year-old G1P0 with purine nucleoside phosphorylase (PNP) deficiency delivered a viable infant vaginally at 37 weeks. Although the patient's diagnosis and pregnancy placed her at increased risk for infection, she remained asymptomatic and infection-free throughout pregnancy.

Conclusion: The management of pregnancy complicated by PNP deficiency requires strict immune surveillance and regimented immunoglobulin replacement.

Keywords: pregnancy; primary immunodeficiency; purine nucleoside phosphorylase deficiency.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Pregnancy
  • Pregnancy Complications*
  • Pregnancy, High-Risk*
  • Primary Immunodeficiency Diseases
  • Purine-Nucleoside Phosphorylase / deficiency*
  • Purine-Pyrimidine Metabolism, Inborn Errors*
  • Young Adult

Substances

  • Purine-Nucleoside Phosphorylase

Supplementary concepts

  • Purine Nucleoside Phosphorylase Deficiency