ZAP70
ZAP70, or Zeta-chain-associated protein kinase 70, is an enzyme involved in T-cell development and signaling. It is mainly expressed in T-cells and natural killer cells and is involved in various cellular processes, including T-cell activation, differentiation, and immune response modulation.
Symptoms:
ZAP70 deficiency typically presents with severe combined immunodeficiency (SCID), characterized by:
- Recurrent infections
- Failure to thrive
- Chronic diarrhea
- Susceptibility to opportunistic infections
Epidemiology:
ZAP70 deficiency is a rare genetic disorder. The exact prevalence is not well-established, but it is considered extremely rare, with only a few reported cases worldwide.
Causes:
ZAP70 deficiency is caused by mutations in the ZAP70 gene, which disrupt the normal function of the enzyme. These mutations can lead to impaired T-cell development and function, resulting in immunodeficiency.
Diagnosis:
Diagnosis of ZAP70 deficiency involves:
- Clinical evaluation
- Immunological assessments
- Genetic testing
Immunophenotyping of T-cells may reveal abnormalities such as reduced or absent expression of ZAP70. Genetic testing can confirm the presence of mutations in the ZAP70 gene.
Treatment:
Currently, there is no curative treatment for ZAP70 deficiency. Management typically involves:
- Supportive care
- Measures to prevent and treat infections
In some cases, hematopoietic stem cell transplantation (HSCT) may be considered to replace defective immune cells with healthy ones.
Prevention:
As ZAP70 deficiency is a genetic disorder, prevention strategies primarily involve:
- Genetic counseling
- Testing for families with a history of the condition
Prenatal testing may be available for families at risk of passing on the mutation to their children.
In summary, ZAP70 deficiency is a rare genetic disorder characterized by immunodeficiency and susceptibility to infections. Early diagnosis, supportive care, and, in some cases, HSCT are essential for managing the condition and improving outcomes. Genetic counseling and testing play a crucial role in prevention and family planning for individuals at risk of inheriting the disorder.