Zap-70 Deficiency

The ZAP-70 (zeta-associated protein 70) deficiency is characterized by an impaired T-cell activation, which is caused by a malfunction of signal transduction.

(See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.)

The ZAP-70 (zeta-associated protein 70) deficiency is characterized by an impaired T-cell activation, which is caused by a malfunction of signal transduction. (See also Overview of immune deficiency disorders, and approach to the patient with an immunodeficiency disorder.) ZAP-70 deficiency is a primary immunodeficiency disease which includes a cellular immune deficiencies. Inheritance occurs as an autosomal recessive. The ZAP-70 protein plays an important role in T-cell signaling and T cell selection in the thymus. A ZAP-70 deficiency leads to defects in T cell activation. Patients with ZAP-70 deficiency diagnosed in infancy and during early childhood, recurrent infections, similar to those in severe combined immunodeficiency (SCID); However, they live longer, and the fault may not diagnosed until they are several years old. The patients have normal, low or increased immunoglobulin serum levels and a normal or increased number of circulating CD4 + T cells, but essentially no CD8 T cells. Their CD4 T cells do not respond to mitogens or allogeneic cells in vitro and do not form cytotoxic T cells. In contrast, the activity of natural killer cells is normal. The diagnosis of ZAP-70 deficiency is similar to the SCID. Without hematopoietic stem cell transplantation, the disease leads to death.

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