Purine nucleoside phosphorylase deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Purine nucleoside phosphorylase deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Purine nucleoside phosphorylase deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = PNP deficiency | |||
| field = [[Immunology]], [[Genetics]] | |||
| symptoms = [[Immunodeficiency]], [[neurological disorders]], [[autoimmune disorders]] | |||
| complications = [[Infections]], [[neurological impairment]] | |||
| onset = [[Infancy]] or [[early childhood]] | |||
| duration = [[Chronic]] | |||
| causes = Mutations in the [[PNP gene]] | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[enzyme assay]] | |||
| differential = [[Severe combined immunodeficiency]], [[Adenosine deaminase deficiency]] | |||
| prevention = [[Genetic counseling]] | |||
| treatment = [[Hematopoietic stem cell transplantation]], [[enzyme replacement therapy]] | |||
| prognosis = Variable, depends on treatment | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting the immune system}} | {{Short description|A rare genetic disorder affecting the immune system}} | ||
'''Purine nucleoside phosphorylase deficiency''' (PNP deficiency) is a rare [[genetic disorder]] that affects the [[immune system]]. It is classified as a type of [[primary immunodeficiency]] and is caused by mutations in the [[PNP gene]]. This condition leads to the accumulation of toxic metabolites, which primarily affect [[T cells]], a type of [[white blood cell]] crucial for the immune response. | '''Purine nucleoside phosphorylase deficiency''' (PNP deficiency) is a rare [[genetic disorder]] that affects the [[immune system]]. It is classified as a type of [[primary immunodeficiency]] and is caused by mutations in the [[PNP gene]]. This condition leads to the accumulation of toxic metabolites, which primarily affect [[T cells]], a type of [[white blood cell]] crucial for the immune response. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Purine nucleoside phosphorylase is an enzyme involved in the [[purine salvage pathway]], which is essential for the breakdown and recycling of purines, the building blocks of [[DNA]] and [[RNA]]. In individuals with PNP deficiency, the enzyme is either absent or non-functional, leading to the accumulation of deoxyguanosine and other toxic metabolites. These substances are particularly harmful to [[lymphocytes]], especially [[T lymphocytes]], resulting in [[lymphopenia]] and impaired immune function. | Purine nucleoside phosphorylase is an enzyme involved in the [[purine salvage pathway]], which is essential for the breakdown and recycling of purines, the building blocks of [[DNA]] and [[RNA]]. In individuals with PNP deficiency, the enzyme is either absent or non-functional, leading to the accumulation of deoxyguanosine and other toxic metabolites. These substances are particularly harmful to [[lymphocytes]], especially [[T lymphocytes]], resulting in [[lymphopenia]] and impaired immune function. | ||
==Clinical Features== | ==Clinical Features== | ||
Patients with PNP deficiency typically present with recurrent infections due to the compromised immune system. Common infections include those caused by [[bacteria]], [[viruses]], and [[fungi]]. In addition to immunodeficiency, affected individuals may exhibit [[neurological symptoms]] such as developmental delay, [[ataxia]], and [[spasticity]]. Autoimmune disorders, such as [[autoimmune hemolytic anemia]] and [[autoimmune thrombocytopenia]], may also occur. | Patients with PNP deficiency typically present with recurrent infections due to the compromised immune system. Common infections include those caused by [[bacteria]], [[viruses]], and [[fungi]]. In addition to immunodeficiency, affected individuals may exhibit [[neurological symptoms]] such as developmental delay, [[ataxia]], and [[spasticity]]. Autoimmune disorders, such as [[autoimmune hemolytic anemia]] and [[autoimmune thrombocytopenia]], may also occur. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of PNP deficiency is based on clinical evaluation, laboratory tests, and genetic analysis. Laboratory findings often reveal low levels of T cells and elevated levels of toxic metabolites in the blood. Genetic testing can confirm mutations in the PNP gene, providing a definitive diagnosis. | The diagnosis of PNP deficiency is based on clinical evaluation, laboratory tests, and genetic analysis. Laboratory findings often reveal low levels of T cells and elevated levels of toxic metabolites in the blood. Genetic testing can confirm mutations in the PNP gene, providing a definitive diagnosis. | ||
==Treatment== | ==Treatment== | ||
Management of PNP deficiency involves supportive care and measures to prevent infections. [[Hematopoietic stem cell transplantation]] (HSCT) is currently the only curative treatment, as it can restore normal immune function. Prior to transplantation, patients may receive [[immunoglobulin replacement therapy]] and [[antibiotic prophylaxis]] to reduce the risk of infections. | Management of PNP deficiency involves supportive care and measures to prevent infections. [[Hematopoietic stem cell transplantation]] (HSCT) is currently the only curative treatment, as it can restore normal immune function. Prior to transplantation, patients may receive [[immunoglobulin replacement therapy]] and [[antibiotic prophylaxis]] to reduce the risk of infections. | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with PNP deficiency varies depending on the severity of the condition and the success of treatment. Early diagnosis and intervention, particularly with HSCT, can significantly improve outcomes. Without treatment, the condition can be life-threatening due to severe infections and complications. | The prognosis for individuals with PNP deficiency varies depending on the severity of the condition and the success of treatment. Early diagnosis and intervention, particularly with HSCT, can significantly improve outcomes. Without treatment, the condition can be life-threatening due to severe infections and complications. | ||
==See also== | |||
== | |||
* [[Primary immunodeficiency]] | * [[Primary immunodeficiency]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
* [[Autoimmune disease]] | * [[Autoimmune disease]] | ||
* [[Lymphocyte]] | * [[Lymphocyte]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immunodeficiency]] | [[Category:Immunodeficiency]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 05:57, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Purine nucleoside phosphorylase deficiency | |
|---|---|
| |
| Synonyms | PNP deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Immunodeficiency, neurological disorders, autoimmune disorders |
| Complications | Infections, neurological impairment |
| Onset | Infancy or early childhood |
| Duration | Chronic |
| Types | N/A |
| Causes | Mutations in the PNP gene |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, enzyme assay |
| Differential diagnosis | Severe combined immunodeficiency, Adenosine deaminase deficiency |
| Prevention | Genetic counseling |
| Treatment | Hematopoietic stem cell transplantation, enzyme replacement therapy |
| Medication | N/A |
| Prognosis | Variable, depends on treatment |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting the immune system
Purine nucleoside phosphorylase deficiency (PNP deficiency) is a rare genetic disorder that affects the immune system. It is classified as a type of primary immunodeficiency and is caused by mutations in the PNP gene. This condition leads to the accumulation of toxic metabolites, which primarily affect T cells, a type of white blood cell crucial for the immune response.
Pathophysiology[edit]
Purine nucleoside phosphorylase is an enzyme involved in the purine salvage pathway, which is essential for the breakdown and recycling of purines, the building blocks of DNA and RNA. In individuals with PNP deficiency, the enzyme is either absent or non-functional, leading to the accumulation of deoxyguanosine and other toxic metabolites. These substances are particularly harmful to lymphocytes, especially T lymphocytes, resulting in lymphopenia and impaired immune function.
Clinical Features[edit]
Patients with PNP deficiency typically present with recurrent infections due to the compromised immune system. Common infections include those caused by bacteria, viruses, and fungi. In addition to immunodeficiency, affected individuals may exhibit neurological symptoms such as developmental delay, ataxia, and spasticity. Autoimmune disorders, such as autoimmune hemolytic anemia and autoimmune thrombocytopenia, may also occur.
Diagnosis[edit]
The diagnosis of PNP deficiency is based on clinical evaluation, laboratory tests, and genetic analysis. Laboratory findings often reveal low levels of T cells and elevated levels of toxic metabolites in the blood. Genetic testing can confirm mutations in the PNP gene, providing a definitive diagnosis.
Treatment[edit]
Management of PNP deficiency involves supportive care and measures to prevent infections. Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment, as it can restore normal immune function. Prior to transplantation, patients may receive immunoglobulin replacement therapy and antibiotic prophylaxis to reduce the risk of infections.
Prognosis[edit]
The prognosis for individuals with PNP deficiency varies depending on the severity of the condition and the success of treatment. Early diagnosis and intervention, particularly with HSCT, can significantly improve outcomes. Without treatment, the condition can be life-threatening due to severe infections and complications.
