Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.
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.
Myers
Laurie A
LA
Division of Allergy and Immunology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA. myers019@mc.duke.edu
Hershfield
Michael S
MS
Neale
Wirt T
WT
Escolar
Maria
M
Kurtzberg
Joanne
J
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*
D011683:Purine-Nucleoside Phosphorylase