ZAP-70 deficiency

ZAP-70 Deficiency

ZAP-70 deficiency (pronounced as /zæp/ - /ˈsev.ən.ti/ deficiency) is a rare autosomal recessive immunodeficiency disorder characterized by the absence or low expression of the ZAP-70 protein, leading to severe combined immunodeficiency (SCID).

Etymology

The term "ZAP-70" stands for Zeta-chain-associated protein kinase 70. It was first identified in 1993 and is named for its molecular weight (70 kilodaltons) and its association with the zeta chain of the T cell receptor.

Definition

ZAP-70 deficiency is a type of Primary Immunodeficiency where the immune system's response is impaired due to the lack of or low levels of the ZAP-70 protein. This protein plays a crucial role in T-cell receptor signaling, which is essential for the immune system's response to infections.

Symptoms

The symptoms of ZAP-70 deficiency can vary but often include recurrent infections, failure to thrive, and severe autoimmunity. Due to the impaired immune response, individuals with ZAP-70 deficiency are more susceptible to various types of infections.

Diagnosis

Diagnosis of ZAP-70 deficiency is typically made through genetic testing, which can identify mutations in the ZAP70 gene. Other diagnostic tests may include immunophenotyping to assess the number and function of immune cells.

Treatment

Treatment for ZAP-70 deficiency typically involves immunoglobulin replacement therapy and prophylactic antibiotics to prevent infections. In severe cases, a bone marrow transplant may be necessary.

Related Terms

External links

Medical encyclopedia article on ZAP-70 deficiency
Wikipedia's article - ZAP-70 deficiency

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ZAP-70 deficiency