1.
J Pediatr
; 145(5): 710-2, 2004 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-15520787
RESUMO
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.