Brief CommunicationSilent brain infarcts in two patients with zeta chain-associated protein 70Â kDa (ZAP70) deficiency

- Herein, we presented two patients with ZAP70 deficiency.
- Both of them had silent brain infarcts as a common feature which has not been report medical literature.
- The first patient presented with recurrent infections and tuberculosis as in classic SCID
- The second patient presented with congenital nephrotic syndrome due to cytomegalovirus infection and had novel mutation.

Zeta-chain associated protein 70 kDa deficiency (ZAP70) is a form of severe combined immunodeficiency (SCID). It is caused by defects in the signaling pathways associated with T-lymphocyte activation. ZAP70 deficiency is characterized by a marked reduction in peripheral CD8 + T-cells. In this report, we described two patients with ZAP70 deficiency who presented with recurrent infections, lung tuberculosis (TBC), congenital nephrotic syndrome (CNS), and silent brain infarcts (SBIs) as a common feature. The first patient initially presented with recurrent infections and TBC as in a classic SCID patient. At the age of 4, he was interned with febrile seizure. Cranial magnetic resonance imaging (MRI) showed SBIs. The second patient, an 8-month-old boy, presented with congenital nephrotic syndrome caused by cytomegalovirus (CMV) and he had also SBIs.