title: Silent brain infarcts in two patients with zeta chain-associated protein 70 kDa (ZAP70) deficiency.
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.
authors: Department of Pediatric Immunology, School of Medicine, Erciyes University, Kayseri, Turkey. Electronic address: himmetakar@gmail.com.
authors: H Haluk
authors: HH
authors: Akar
authors: Department of Pediatric Immunology, School of Medicine, Erciyes University, Kayseri, Turkey.
authors: Turkan
authors: T
authors: Patiroglu
authors: Medical Faculty, Department of Pediatric Intensive Care Unit, Erciyes University, Kayseri, Turkey.
authors: Basak N
authors: BN
authors: Akyildiz
authors: Medical Faculty, Department of Pediatric Intensive Care Unit, Erciyes University, Kayseri, Turkey.
authors: Nazan U
authors: NU
authors: Tekerek
authors: Medical Faculty, Department of Pediatric Radiology, Erciyes University, Kayseri, Turkey.
authors: M Sait
authors: MS
authors: Doğan
authors: Medical Faculty, Department of Pediatric Radiology, Erciyes University, Kayseri, Turkey.
authors: Selim
authors: S
authors: Doğanay
authors: Department of Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands.
authors: Mirjam
authors: M
authors: van der Burg
authors: Medical Faculty, Department of Pediatric Nephrology, Erciyes University, Kayseri, Turkey.
authors: Ruhan
authors: R
authors: Dusunsel
mesh_terms: D058070:Asymptomatic Diseases; D020520:Brain Infarction / Q000209:etiology*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D008297:Male; D009404:Nephrotic Syndrome / Q000151:congenital / Q000209:etiology; D016511:Severe Combined Immunodeficiency / Q000150:complications*; D014376:Tuberculosis / Q000209:etiology; D051746:ZAP-70 Protein-Tyrosine Kinase / Q000172:deficiency*
chemical_list: D051746:ZAP-70 Protein-Tyrosine Kinase
keywords: Congenital nephrotic syndrome; Silent brain infarcts; ZAP70 deficiency