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

Jessica Martin, Richa Sharma, Robert Nelson, Frank Schubert, Jennifer Weida

Research output: Contribution to journalArticle

1 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1-4
Number of pages4
JournalFetal and Pediatric Pathology
StateAccepted/In press - Jan 1 2016



  • pregnancy
  • primary immunodeficiency
  • purine nucleoside phosphorylase deficiency

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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