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ZAP-70 insufficiency: causes, symptoms, diagnosis, treatment
Last reviewed: 07.07.2025
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ZAP-70 (zeta-a-associated protein-70) deficiency results in impaired T-lymphocyte activation, which causes defects in signaling systems.
ZAP-70 is important in T-cell interactions and T-cell selection in the thymus. ZAP-70 deficiency leads to defects in T-cell activation.
Patients with ZAP-70 deficiency have recurrent infections similar to those seen in CVID in infancy or early childhood; however, patients with ZAP-70 deficiency survive longer and may not be diagnosed until years later. Patients may have normal, low, or elevated serum immunoglobulin levels, normal or elevated circulating CD4 T cells, and no CD8 T cells. These CD4 T cells do not respond to mitogens or allogeneic cells in vitro and do not form cytotoxic T cells. Natural killer cell activity is normal. The disease is fatal unless bone marrow transplantation is performed.
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