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
Language
- eng
Conference Location
- United States