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Genetic and Rare Diseases Information Center (GARD)

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Purine nucleoside phosphorylase deficiency


Other Names for this Disease

  • PNP deficiency
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Overview

Purine nucleoside phosphorylase (PNP) deficiency is a primary immunodeficiency syndrome characterized by recurrent infections, neurologic symptoms, and autoimmune disorders. PNP deficiency causes a shortage of white blood cells called T cells that help fight infection. Some people with this condition develop neurologic symptoms, such as spasticity, ataxia, developmental delay, or intellectual disability. In addition, PNP deficiency is associated with increased risk of autoimmune disorders, such as autoimmune hemolytic anemia, idiopathic thrombocytopenia (ITP), autoimmune neutropenia, thyroiditis, and lupus. PNP deficiency is a autosomal recessive disorder caused by mutations in the PNP gene. Treatment with bone marrow transplantation can improve the immune system problems associated with this condition, but does not improve the neurologic symptoms.[1]
Last updated: 6/29/2009

References

  1. Knutsen AP. Purine Nucleoside Phosphorylase Deficiency. eMedicine Journal. May 21, 2009; http://emedicine.medscape.com/article/887823-followup. Accessed 6/29/2009.
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  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Purine nucleoside phosphorylase deficiency. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • PNP deficiency
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.