Purine nucleoside phosphorylase deficiency

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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.

Historical Perspective

Classification

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.[1][2]

In contrast to adenosine deaminase deficiency (another deficiency of purine metabolism), there is minimal disruption to B cells.[3]

Causes

Differentiating Purine nucleoside phosphorylase deficiency from Other Diseases

Epidemiology and Demographics

Prevalence

Purine nucleoside phosphorylase deficiency has an autosomal recessive pattern of inheritance.

PNP-deficiency is extremely rare. Only 33 patients with the disorder in the United States have been documented.[4] In the United Kingdom only one child has been diagnosed with this disorder.

Risk Factors

Screening

Natural History, Complications, and Prognosis

Natural History

Complications

Prognosis

Diagnosis

Diagnostic Criteria

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.[4]

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

Physical Examination

Laboratory Findings

Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

References

  1. Snyder FF, Jenuth JP, Mably ER, Mangat RK (1997). "Point mutations at the purine nucleoside phosphorylase locus impair thymocyte differentiation in the mouse". Proc. Natl. Acad. Sci. U.S.A. 94 (6): 2522–7. doi:10.1073/pnas.94.6.2522. PMC 20121. PMID 9122228. Unknown parameter |month= ignored (help)
  2. Toro A, Grunebaum E (2006). "TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice". J. Clin. Invest. 116 (10): 2717–26. doi:10.1172/JCI25052. PMC 1560347. PMID 16964310. Unknown parameter |month= ignored (help)
  3. "eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen".
  4. 4.0 4.1 Markert ML (1991). "Purine nucleoside phosphorylase deficiency". Immunodefic Rev. 3 (1): 45–81. PMID 1931007.



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