Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.

Journal Article (Journal Article)

Purine nucleoside phosphorylase deficiency is a primary immunodeficiency syndrome characterized by the triad of recurrent infection, neurologic dysfunction, and autoimmunity. This patient presented atypically with few infections and normal T-cell function. Progressive lymphopenia, ataxia, and developmental delay led to diagnosis. Umbilical cord blood transplantation corrected the immunodeficiency.

Full Text

Duke Authors

Cited Authors

  • Myers, LA; Hershfield, MS; Neale, WT; Escolar, M; Kurtzberg, J

Published Date

  • November 2004

Published In

Volume / Issue

  • 145 / 5

Start / End Page

  • 710 - 712

PubMed ID

  • 15520787

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/j.jpeds.2004.06.075


  • eng

Conference Location

  • United States