* This is the Professional Version. *
ZAP-70 Deficiency
Patient Education
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
ZAP-70 (zeta-associated protein 70) deficiency is impaired T-cell activation caused by a signaling defect.
(See also Overview of Immunodeficiency Disorders and Approach to the Patient With an Immunodeficiency Disorder.)
ZAP-70 deficiency is a primary immunodeficiency disorder that involves cellular immunity deficiencies. Inheritance is autosomal recessive.
ZAP-70 is important in T-cell signaling and in T-cell selection in the thymus. ZAP-70 deficiency causes T-cell activation defects.
Patients who have ZAP-70 deficiency present during infancy or early childhood with recurrent infections similar to those in severe combined immunodeficiency (SCID); however, they live longer, and the deficiency may not be diagnosed until they are several years old. Patients have normal, low, or elevated serum immunoglobulin levels and normal or elevated numbers 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 produce cytotoxic T cells. In contrast, natural killer cell activity is normal.
Diagnosis of ZAP-70 deficiency is similar to that for SCID.
The disorder is fatal unless treated by hematopoietic stem cell transplantation.
- Immunodeficiency Disorders
- Overview of Immunodeficiency Disorders
- Approach to the Patient With Suspected Immunodeficiency
- Ataxia-Telangiectasia
- Chédiak-Higashi Syndrome
- Chronic Granulomatous Disease (CGD)
- Chronic Mucocutaneous Candidiasis
- Common Variable Immunodeficiency (CVID)
- DiGeorge Syndrome
- Hyper-IgE Syndrome
- Hyper-IgM Syndrome
- Selective IgA Deficiency
- Leukocyte Adhesion Deficiency
- Selective Antibody Deficiency With Normal Immunoglobulins (SADNI)
- Severe Combined Immunodeficiency (SCID)
- Transient Hypogammaglobulinemia of Infancy
- Wiskott-Aldrich Syndrome
- X-linked Agammaglobulinemia
- X-linked Lymphoproliferative Syndrome
- ZAP-70 Deficiency
* This is the Professional Version. *
Also of Interest
Test your knowledge
Immunodeficiency typically manifests as recurrent infections. However, there are more likely causes of recurrent infections, such as inadequate duration of antibiotic treatment, resistant organisms, and other disorders that predispose to infection. Immunodeficiency should be suspected EXCEPT when recurrent infections are which of the following?
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