ZAP-70 deficiency

Overview

Type of disease: Rare conditions

ZAP-70 deficiency is an acronym for Zeta-Associated Protein 70 Deficiency. Individuals 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. The disorder is fatal unless treated by bone marrow transplantation.

Diagnosis is similar to that for severe combined immunodeficiency.

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