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

AKAR H. H. , PATIROĞLU T. , AKYILDIZ B. , TEKEREK N. U. , DOĞAN M. , Doganay S., ...Daha Fazla

CLINICAL IMMUNOLOGY, cilt.158, ss.88-91, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 158 Konu: 1
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.clim.2015.03.014
  • Sayfa Sayıları: ss.88-91


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. (C) 2015 Elsevier Inc. All rights reserved.