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

Clin Immunol. 2015 May;158(1):88-91. doi: 10.1016/j.clim.2015.03.014. Epub 2015 Mar 22.

Abstract

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.

Keywords: Congenital nephrotic syndrome; Silent brain infarcts; ZAP70 deficiency.

Publication types

  • Case Reports

MeSH terms

  • Asymptomatic Diseases
  • Brain Infarction / etiology*
  • Child, Preschool
  • Humans
  • Infant
  • Male
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / etiology
  • Severe Combined Immunodeficiency / complications*
  • Tuberculosis / etiology
  • ZAP-70 Protein-Tyrosine Kinase / deficiency*

Substances

  • ZAP-70 Protein-Tyrosine Kinase

Supplementary concepts

  • ZAP70 deficiency