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ZAP-70 Deficiency

By

James Fernandez

, MD, PhD, Cleveland Clinic Lerner College of Medicine at Case Western Reserve University

Last full review/revision Apr 2021| Content last modified Apr 2021
Click here for the Professional Version

ZAP-70 (zeta-associated protein 70) deficiency is a genetic disorder of the immune system that results in an abnormality in T cells that prevents T cells from becoming activated to fight specific infections.

ZAP-70 deficiency is a primary immunodeficiency disorder. Its inheritance is autosomal recessive.

ZAP-70 deficiency causes recurrent infections similar to those in severe combined immunodeficiency (SCID) in infants and young children. However, the deficiency may not be diagnosed until children are several years old.

Blood tests are done to measure the number of B cells and T cells and immunoglobulin levels and to evaluate how well B cells and T cells are functioning.

The disorder is fatal unless the child receives a stem cell transplant.

More Information about ZAP-70 Deficiency

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