Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.
Publication
, Journal Article
Myers, LA; Hershfield, MS; Neale, WT; Escolar, M; Kurtzberg, J
Published in: J Pediatr
November 2004
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.
Duke Scholars
Published In
J Pediatr
DOI
ISSN
0022-3476
Publication Date
November 2004
Volume
145
Issue
5
Start / End Page
710 / 712
Location
United States
Related Subject Headings
- Purine-Nucleoside Phosphorylase
- Pediatrics
- Male
- Lymphopenia
- Infant
- Immunologic Deficiency Syndromes
- Humans
- Developmental Disabilities
- Cord Blood Stem Cell Transplantation
- 3213 Paediatrics
Citation
APA
Chicago
ICMJE
MLA
NLM
Myers, L. A., Hershfield, M. S., Neale, W. T., Escolar, M., & Kurtzberg, J. (2004). Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr, 145(5), 710–712. https://doi.org/10.1016/j.jpeds.2004.06.075
Myers, Laurie A., Michael S. Hershfield, Wirt T. Neale, Maria Escolar, and Joanne Kurtzberg. “Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.” J Pediatr 145, no. 5 (November 2004): 710–12. https://doi.org/10.1016/j.jpeds.2004.06.075.
Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J. Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr. 2004 Nov;145(5):710–2.
Myers, Laurie A., et al. “Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.” J Pediatr, vol. 145, no. 5, Nov. 2004, pp. 710–12. Pubmed, doi:10.1016/j.jpeds.2004.06.075.
Myers LA, Hershfield MS, Neale WT, Escolar M, Kurtzberg J. Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation. J Pediatr. 2004 Nov;145(5):710–712.
Published In
J Pediatr
DOI
ISSN
0022-3476
Publication Date
November 2004
Volume
145
Issue
5
Start / End Page
710 / 712
Location
United States
Related Subject Headings
- Purine-Nucleoside Phosphorylase
- Pediatrics
- Male
- Lymphopenia
- Infant
- Immunologic Deficiency Syndromes
- Humans
- Developmental Disabilities
- Cord Blood Stem Cell Transplantation
- 3213 Paediatrics