Purine nucleoside phosphorylase deficiency

Purine nucleoside phosphorylase deficiency
ICD-10	D81.5
ICD-9	277.2
OMIM	164050
DiseasesDB	11044

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: PNP-deficiency

Overview

Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a rare congenital immunodeficiency of purine nucleoside phosphorylase. This enzyme is important in the purine degradation pathway. A deficiency of it causes T-cell immunodeficiency. It is also often associated with neurological disorders such as mental retardation. This autosomal recessive metabolic disorder results in severe combined immunodeficiency.

Pathophysiology

The disorder is caused by a disruption of the purine nucleoside phosphorylase, a key enzyme in the purine salvage pathway.

This enzyme is required for purine degradation. Specifically, it catalyzes the conversion of inosine and guanosine to hypoxanthine. A deficiency of it leads to build up of elevated deoxy-GTP (dGTP) levels resulting in T-cell toxicity and deficiency.

In contrast to adenosine deaminase deficiency (another deficiency of purine metabolism), there is minimal disruption to B cells.

Epidemiology and Demographics

Prevalence

File:Autorecessive.svg PNP-deficiency is extremely rare. Only 33 patients with the disorder in the United States have been documented. In the United Kingdom only one child has been diagnosed with this disorder.

Diagnosis

History and Symptoms

In addition to the symptoms associated with immunodeficiency, such as depletion of T-cells, decline of lymphocyte activity, and an abrupt proliferation of both benign and opportunistic infections, PNP-deficiency is often characterized by the development of autoimmune disorders. Lupus-erythematosis, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura have been reported with PNP-deficiency.

Neurological symptoms, such as developmental decline, hypotonia, and mental retardation have also been reported.

References

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