Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood …
LA Myers, MS Hershfield, WT Neale, M Escolar… - The Journal of …, 2004 - Elsevier
LA Myers, MS Hershfield, WT Neale, M Escolar, J Kurtzberg
The Journal of pediatrics, 2004•ElsevierPurine 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.
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.
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.
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