Two novel mutations in ZAP70 gene that result in human immunodeficiency

- Two novel mutations in ZAP70 in a patient with an early-onset immunodeficiency are described.
- Both mutations resulted in partial absence of ZAP-70 protein and were ineffective to promote TCR-dependent signals.
- Our findings extend the genetic etiology and molecular characterization of ZAP-70 mutations that lead to early onset immunodeficiency.