ZAP-70 deficiency
Other Names[edit | edit source]
Zeta-associated-protein 70 deficiency; Severe combined immunodeficiency due to ZAP70 deficiency
Definition[edit | edit source]
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
Pathophysiology[edit | edit source]
ZAP-70 deficiency is a very rare, genetic, combined immunodeficiency disorder characterized by the following:
- lymphocytosis
- decreased peripheral CD8+ T-cells, and
- presence of normal circulating CD4+ T-cells
Symptoms[edit | edit source]
80%-99% of people have these symptoms
- Decreased lymphocyte proliferation in response to mitogen
- Recurrent opportunistic infections
- Recurrent viral infections
30%-79% of people have these symptoms
- Absence of CD8-positive T cells
- Chronic diarrhea
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NIH genetic and rare disease info[edit source]
ZAP-70 deficiency is a rare disease.
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Contributors: Prab R. Tumpati, MD
