Purine nucleoside phosphorylase deficiency

Common Name(s)

Purine nucleoside phosphorylase deficiency

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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Purine nucleoside phosphorylase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Purine nucleoside phosphorylase deficiency" returned 21 free, full-text research articles on human participants. First 3 results:

Purine nucleoside phosphorylase deficiency with a novel PNP gene mutation: a first case report from India.
 

Author(s): Manisha Rajan Madkaikar, Shilpa Kulkarni, Prashant Utage, Lynette Fairbanks, Kanjaksha Ghosh, Anthony Marinaki, Mukesh Desai

Journal:

 

The authors report a case of purine nucleoside phosphorylase (PNP) deficiency for the first time from India. The case presented with recurrent severe infections, developmental delays, seizures and progressive neurological deterioration. The diagnosis of primary immunodeficiency disorder ...

Last Updated: 6 Jun 2012

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Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients.
 

Author(s): Abdullah Alangari, Abdullah Al-Harbi, Abdulaziz Al-Ghonaium, Ines Santisteban, Michael Hershfield

Journal: Ann Saudi Med. ;29(4):309-12.

 

Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal recessive metabolic disorder that results in combined immunodeficiency, neurologic dysfunction and autoimmunity. PNP deficiency has never been reported from Saudi Arabia or in patients with an Arabic ethnic background. ...

Last Updated: 8 Jul 2009

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TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice.
 

Author(s): Ana Toro, Eyal Grunebaum

Journal: J. Clin. Invest.. 2006 Oct;116(10):2717-26.

 

Defects in purine nucleoside phosphorylase (PNP) enzyme activity result in abnormal nucleoside homeostasis, severe T cell immunodeficiency, neurological dysfunction, and early death. Protein transduction domain (PTD) can transfer molecules into cells and may help restore PNP activity ...

Last Updated: 3 Oct 2006

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Reviews from the PubMed Database

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The terms "Purine nucleoside phosphorylase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.