title: Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.
abstract: 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.
authors.affiliation: Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. myers019@mc.duke.edu
authors.forename: Laurie A
authors.initials: LA
authors.lastname: Myers
authors.forename: Michael S
authors.initials: MS
authors.lastname: Hershfield
authors.forename: Wirt T
authors.initials: WT
authors.lastname: Neale
authors.forename: Maria
authors.initials: M
authors.lastname: Escolar
authors.forename: Joanne
authors.initials: J
authors.lastname: Kurtzberg
mesh_terms: D036101:Cord Blood Stem Cell Transplantation; D002658:Developmental Disabilities / Q000201:enzymology / Q000209:etiology; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000201:enzymology / Q000601:surgery*; D007223:Infant; D008231:Lymphopenia / Q000201:enzymology / Q000209:etiology; D008297:Male; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*
chemical_list: D011683:Purine-Nucleoside Phosphorylase