Sam Abbassi, Elad Moisseiev, Susanna S Park, Esther S Kim and Mary O’Hara*
Department of Ophthalmology and Vision Science, University of California Davis Eye Center, USAFulltext PDF
Purine Nucleoside Phosphorylase (PNP) is a ubiquitous enzyme that plays a role in purine metabolism, with the highest expression levels found in lymphocytes. Deficiency of this enzyme caused by autosomal recessive mutations, leads to impairment of DNA replication and cellular proliferation. PNP deficiency constitutes a rare form of Severe Combined Immunodeficiency (SCID) resulting in impaired T-cell function and recurrent life threatening infections. More than half of patients also suffer from neurological dysfunction thought to result from toxic metabolite buildup. The only known cure for this disease is Hematopoietic Stem Cell Transplantation (HSCT). This is a case report of a three-year-old boy with PNP deficiency who developed concurrent systemic Baylisascaris Procyonis and Varicella Zoster Virus (VZV) infection with ocular manifestations necessitating systemic therapy and pars plana vitrectomy.
Purine nucleoside phosphorylase; Varicella zoster virus; Baylisascaris procyonis
Abbassi S, Moisseiev E, Park SS, Kim ES, O’Hara M. Concurrent Baylisascaris Procyonis and Varicella Zoster Virus Infection in a Child with Purine Nucleoside Phosphorylase Deficiency. Clin Surg. 2016; 1: 1272..