ZAP70 deficiency

ZAP70 deficiency is a rare immunodeficiency disorder characterized by the absence or low levels of a protein called ZAP70. The term "ZAP70" stands for "Zeta-chain-associated protein kinase 70", and it plays a crucial role in the immune system's T-cell receptor signaling pathway.

Pronunciation

ZAP70 deficiency is pronounced as "Zee-Ay-Pee-Seventy deficiency".

Etymology

The term "ZAP70" is an acronym derived from "Zeta-chain-associated protein kinase 70". The number 70 refers to the molecular weight of the protein, which is approximately 70 kilodaltons.

Symptoms

Patients with ZAP70 deficiency typically present with recurrent infections, autoimmunity, and an increased susceptibility to cancer. The severity of symptoms can vary widely among affected individuals.

Diagnosis

Diagnosis of ZAP70 deficiency is typically made through genetic testing, which can identify mutations in the ZAP70 gene. Other diagnostic tests may include immunophenotyping and flow cytometry.

Treatment

Treatment for ZAP70 deficiency is primarily supportive and may include antibiotic therapy for infections, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation.

Related Terms

• Immunodeficiency
• T-cell receptor
• Zeta-chain-associated protein kinase 70
• Autoimmunity
• Cancer
• Infections
• Genetic testing
• Immunophenotyping
• Flow cytometry
• Antibiotic
• Immunoglobulin
• Hematopoietic stem cell transplantation

External links

• Medical encyclopedia article on ZAP70 deficiency
• Wikipedia's article - ZAP70 deficiency

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