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Merck Manual

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ZAP-70 Deficiency


James Fernandez

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

Last full review/revision Dec 2019| Content last modified Dec 2019
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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.

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.

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