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.
(See also Overview of Immunodeficiency Disorders.)
T cells are white blood cells that identify and attack foreign cells and substances. Deficiency or malfunction of T cells increases the risk of serious infection. 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
The following English-language resource may be useful. Please note that The Manual is not responsible for the content of this resource.
Immune Deficiency Foundation: General information on primary immunodeficiencies, including information on diagnosis and treatment
