Purine nucleoside phosphorylase deficiency
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| Purine nucleoside phosphorylase deficiency Classification and external resources |
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| ICD-10 | D81.5 |
|---|---|
| ICD-9 | 277.2 |
| OMIM | 164050 |
| DiseasesDB | 11044 |
| eMedicine | ped/1957 |
Purine nucleoside phosphorylase deficiency, often called PNP-deficiency, is a very rare autosomal recessive metabolic disorder which results in severe combined immunodeficiency.
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[edit] Causes
It is to a disruption of the purine nucleoside phosphorylase enzymatic pathway.
This enzyme is required for purine degradation. A deficiency of it also causes T-cell deficiency.[1][2]
In contrast to adenosine deaminase deficiency (another deficiency of pyrimidine metabolism), there is minimal disruption to B cells.[3]
[edit] 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 developement 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.
[edit] Genetic prevalence
PNP-deficiency is extremely rare. Only 33 patients with the disorder in the United States have been documented.[4]
[edit] References
- ^ Snyder FF, Jenuth JP, Mably ER, Mangat RK (March 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. PMID 9122228. PMC:20121.
- ^ Toro A, Grunebaum E (October 2006). "TAT-mediated intracellular delivery of purine nucleoside phosphorylase corrects its deficiency in mice". J. Clin. Invest. 116 (10): 2717–26. doi:. PMID 16964310. PMC:1560347.
- ^ eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen.
- ^ a b Markert ML (1991). "Purine nucleoside phosphorylase deficiency". Immunodefic Rev. 3 (1): 45–81. PMID 1931007.
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