Purine nucleoside phosphorylase deficiency: Difference between revisions
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{{Infobox_Disease | | {{Infobox_Disease | | ||
Name = Purine nucleoside phosphorylase deficiency | | Name = Purine nucleoside phosphorylase deficiency | | ||
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{{SI}} | {{SI}} | ||
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{{SK}} PNP-deficiency | |||
==Overview== | ==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]]. | '''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== | ==Pathophysiology== | ||
The disorder is caused by a disruption of the [[purine nucleoside phosphorylase]], a key enzyme in the purine salvage pathway. | The disorder is caused by a disruption of the [[purine nucleoside phosphorylase]], a key enzyme in the purine salvage pathway. | ||
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In contrast to [[adenosine deaminase deficiency]] (another deficiency of [[purine metabolism]]), there is minimal disruption to [[B cell]]s.<ref name="urleMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen">{{cite web |url=http://www.emedicine.com/ped/TOPIC1957.HTM |title=eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen |format= |work= |accessdate=}}</ref> | In contrast to [[adenosine deaminase deficiency]] (another deficiency of [[purine metabolism]]), there is minimal disruption to [[B cell]]s.<ref name="urleMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen">{{cite web |url=http://www.emedicine.com/ped/TOPIC1957.HTM |title=eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen |format= |work= |accessdate=}}</ref> | ||
==Prevalence== | |||
==Symptoms== | [[Image:autorecessive.svg|thumb|right|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.<ref name="pnpone"/> In the United Kingdom only one child has been diagnosed with this disorder. | |||
==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 disorder]]s. [[lupus erythematosus|Lupus]]-erythematosis, autoimmune [[hemolytic anemia]], and [[idiopathic thrombocytopenic purpura]] have been reported with PNP-deficiency.<ref name="pnpone">{{cite journal |author=Markert ML |title=Purine nucleoside phosphorylase deficiency |journal=Immunodefic Rev. |volume=3 |issue=1 |pages=45–81 |year=1991 |pmid=1931007 }}</ref> | 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 disorder]]s. [[lupus erythematosus|Lupus]]-erythematosis, autoimmune [[hemolytic anemia]], and [[idiopathic thrombocytopenic purpura]] have been reported with PNP-deficiency.<ref name="pnpone">{{cite journal |author=Markert ML |title=Purine nucleoside phosphorylase deficiency |journal=Immunodefic Rev. |volume=3 |issue=1 |pages=45–81 |year=1991 |pmid=1931007 }}</ref> | ||
Neurological symptoms, such as developmental decline, [[hypotonia]], and [[mental retardation]] have also been reported. | Neurological symptoms, such as developmental decline, [[hypotonia]], and [[mental retardation]] have also been reported. | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{Immune disorders}} | {{Immune disorders}} | ||
{{Purine, pyrimidine, porphyrin, bilirubin metabolic pathology}} | {{Purine, pyrimidine, porphyrin, bilirubin metabolic pathology}} | ||
[[Category:Noninfectious immunodeficiency-related cutaneous conditions]] | [[Category:Noninfectious immunodeficiency-related cutaneous conditions]] | ||
Revision as of 16:32, 5 November 2012
| Purine nucleoside phosphorylase deficiency | |
| ICD-10 | D81.5 |
|---|---|
| ICD-9 | 277.2 |
| OMIM | 164050 |
| DiseasesDB | 11044 |
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.[1][2]
In contrast to adenosine deaminase deficiency (another deficiency of purine metabolism), there is minimal disruption to B cells.[3]
Prevalence
File:Autorecessive.svg 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.
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.
References
- ↑ 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) - ↑ 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) - ↑ "eMedicine - Purine Nucleoside Phosphorylase Deficiency : Article by Alan P Knutsen".
- ↑ 4.0 4.1 Markert ML (1991). "Purine nucleoside phosphorylase deficiency". Immunodefic Rev. 3 (1): 45–81. PMID 1931007.
Template:Purine, pyrimidine, porphyrin, bilirubin metabolic pathology