ZAP70 deficiency: Difference between revisions
CSV import Tag: Removed redirect |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} | |||
{{Infobox medical condition | |||
| name = ZAP70 deficiency | |||
| image = [[File:autorecessive.svg|200px]] | |||
| caption = ZAP70 deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Zeta-chain-associated protein kinase 70 deficiency | |||
| field = [[Immunology]] | |||
| symptoms = [[Recurrent infections]], [[failure to thrive]], [[chronic diarrhea]], [[eczema]] | |||
| complications = [[Autoimmune disease]], [[lymphoproliferative disorders]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = Mutations in the [[ZAP70]] gene | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Genetic testing]], [[flow cytometry]] | |||
| differential = [[Severe combined immunodeficiency]], [[CD3 complex deficiency]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Hematopoietic stem cell transplantation]] | |||
| medication = [[Prophylactic antibiotics]], [[immunoglobulin replacement therapy]] | |||
| prognosis = Variable, dependent on treatment | |||
| frequency = Rare | |||
}} | |||
{{Short description|A rare genetic disorder affecting the immune system}} | {{Short description|A rare genetic disorder affecting the immune system}} | ||
'''ZAP70 deficiency''' is a rare [[primary immunodeficiency]] disorder characterized by a defect in the [[ZAP-70]] protein, which is crucial for [[T cell receptor]] signaling. This condition leads to severe combined immunodeficiency (SCID), affecting the body's ability to fight infections. | '''ZAP70 deficiency''' is a rare [[primary immunodeficiency]] disorder characterized by a defect in the [[ZAP-70]] protein, which is crucial for [[T cell receptor]] signaling. This condition leads to severe combined immunodeficiency (SCID), affecting the body's ability to fight infections. | ||
==Pathophysiology== | ==Pathophysiology== | ||
ZAP-70, or zeta-chain-associated protein kinase 70, is a [[tyrosine kinase]] that plays a critical role in the signaling pathways of T cells. It is essential for the activation and development of [[T lymphocytes]], which are vital components of the [[adaptive immune system]]. In individuals with ZAP70 deficiency, mutations in the [[ZAP70 gene]] lead to a non-functional protein, impairing T cell receptor signaling. This results in the failure of T cell development and function, particularly affecting [[CD8+ T cells]], while [[CD4+ T cells]] may be present but are non-functional. | ZAP-70, or zeta-chain-associated protein kinase 70, is a [[tyrosine kinase]] that plays a critical role in the signaling pathways of T cells. It is essential for the activation and development of [[T lymphocytes]], which are vital components of the [[adaptive immune system]]. In individuals with ZAP70 deficiency, mutations in the [[ZAP70 gene]] lead to a non-functional protein, impairing T cell receptor signaling. This results in the failure of T cell development and function, particularly affecting [[CD8+ T cells]], while [[CD4+ T cells]] may be present but are non-functional. | ||
==Clinical Presentation== | ==Clinical Presentation== | ||
Patients with ZAP70 deficiency typically present in infancy with recurrent infections, failure to thrive, and chronic diarrhea. The lack of functional T cells leads to increased susceptibility to opportunistic infections, including viral, bacterial, and fungal pathogens. Common infections include [[pneumonia]], [[chronic diarrhea]], and [[oral thrush]]. | Patients with ZAP70 deficiency typically present in infancy with recurrent infections, failure to thrive, and chronic diarrhea. The lack of functional T cells leads to increased susceptibility to opportunistic infections, including viral, bacterial, and fungal pathogens. Common infections include [[pneumonia]], [[chronic diarrhea]], and [[oral thrush]]. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of ZAP70 deficiency involves a combination of clinical evaluation, immunological testing, and genetic analysis. Laboratory findings often reveal normal or elevated levels of [[immunoglobulins]] but a marked reduction in CD8+ T cells. Genetic testing can confirm mutations in the ZAP70 gene, which are typically inherited in an [[autosomal recessive]] pattern. | Diagnosis of ZAP70 deficiency involves a combination of clinical evaluation, immunological testing, and genetic analysis. Laboratory findings often reveal normal or elevated levels of [[immunoglobulins]] but a marked reduction in CD8+ T cells. Genetic testing can confirm mutations in the ZAP70 gene, which are typically inherited in an [[autosomal recessive]] pattern. | ||
==Treatment== | ==Treatment== | ||
The primary treatment for ZAP70 deficiency is [[hematopoietic stem cell transplantation]] (HSCT), which can restore immune function by providing the patient with healthy donor stem cells capable of developing into functional T cells. Prior to transplantation, patients may require supportive care, including prophylactic antibiotics and immunoglobulin replacement therapy, to manage infections and other complications. | The primary treatment for ZAP70 deficiency is [[hematopoietic stem cell transplantation]] (HSCT), which can restore immune function by providing the patient with healthy donor stem cells capable of developing into functional T cells. Prior to transplantation, patients may require supportive care, including prophylactic antibiotics and immunoglobulin replacement therapy, to manage infections and other complications. | ||
==Prognosis== | ==Prognosis== | ||
With successful HSCT, patients with ZAP70 deficiency can achieve normal immune function and lead healthy lives. However, without treatment, the condition is life-threatening due to the severe immunodeficiency and associated complications. | With successful HSCT, patients with ZAP70 deficiency can achieve normal immune function and lead healthy lives. However, without treatment, the condition is life-threatening due to the severe immunodeficiency and associated complications. | ||
==See also== | |||
== | |||
* [[Severe combined immunodeficiency]] | * [[Severe combined immunodeficiency]] | ||
* [[Primary immunodeficiency]] | * [[Primary immunodeficiency]] | ||
* [[T cell receptor]] | * [[T cell receptor]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immunodeficiency]] | [[Category:Immunodeficiency]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
Latest revision as of 19:36, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| ZAP70 deficiency | |
|---|---|
| |
| Synonyms | Zeta-chain-associated protein kinase 70 deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, failure to thrive, chronic diarrhea, eczema |
| Complications | Autoimmune disease, lymphoproliferative disorders |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the ZAP70 gene |
| Risks | Consanguinity |
| Diagnosis | Genetic testing, flow cytometry |
| Differential diagnosis | Severe combined immunodeficiency, CD3 complex deficiency |
| Prevention | Genetic counseling |
| Treatment | Hematopoietic stem cell transplantation |
| Medication | Prophylactic antibiotics, immunoglobulin replacement therapy |
| Prognosis | Variable, dependent on treatment |
| Frequency | Rare |
| Deaths | N/A |
A rare genetic disorder affecting the immune system
ZAP70 deficiency is a rare primary immunodeficiency disorder characterized by a defect in the ZAP-70 protein, which is crucial for T cell receptor signaling. This condition leads to severe combined immunodeficiency (SCID), affecting the body's ability to fight infections.
Pathophysiology[edit]
ZAP-70, or zeta-chain-associated protein kinase 70, is a tyrosine kinase that plays a critical role in the signaling pathways of T cells. It is essential for the activation and development of T lymphocytes, which are vital components of the adaptive immune system. In individuals with ZAP70 deficiency, mutations in the ZAP70 gene lead to a non-functional protein, impairing T cell receptor signaling. This results in the failure of T cell development and function, particularly affecting CD8+ T cells, while CD4+ T cells may be present but are non-functional.
Clinical Presentation[edit]
Patients with ZAP70 deficiency typically present in infancy with recurrent infections, failure to thrive, and chronic diarrhea. The lack of functional T cells leads to increased susceptibility to opportunistic infections, including viral, bacterial, and fungal pathogens. Common infections include pneumonia, chronic diarrhea, and oral thrush.
Diagnosis[edit]
Diagnosis of ZAP70 deficiency involves a combination of clinical evaluation, immunological testing, and genetic analysis. Laboratory findings often reveal normal or elevated levels of immunoglobulins but a marked reduction in CD8+ T cells. Genetic testing can confirm mutations in the ZAP70 gene, which are typically inherited in an autosomal recessive pattern.
Treatment[edit]
The primary treatment for ZAP70 deficiency is hematopoietic stem cell transplantation (HSCT), which can restore immune function by providing the patient with healthy donor stem cells capable of developing into functional T cells. Prior to transplantation, patients may require supportive care, including prophylactic antibiotics and immunoglobulin replacement therapy, to manage infections and other complications.
Prognosis[edit]
With successful HSCT, patients with ZAP70 deficiency can achieve normal immune function and lead healthy lives. However, without treatment, the condition is life-threatening due to the severe immunodeficiency and associated complications.
