Home | My Profile | Contact Us
Research Trends Products  |   order gateway  |   author gateway  |   editor gateway  
ID:
Password:
Register | Forgot Password

Author Resources
 Author Gateway
 Article submission guidelines

Editor Resources
 Editor/Referee Gateway

Agents/Distributors
 Regional Subscription Agents/Distributors
 
Current Trends in Immunology   Volumes    Volume 22 
Abstract
Unusual central nervous system (CNS) Herpesvirus-6 infection in a patient with ZAP-70 deficiency due to a homozygous mutation
Mariana N. Villa, Adriana E. Galeano, Sergio Rosenzweig, Jorge G. Rossi, Matías M. Oleastro, Andrea R. Bernasconi
Pages: 69 - 75
Number of pages: 7
Current Trends in Immunology
Volume 22 

Copyright © 2021 Research Trends. All rights reserved

ABSTRACT
 
ZAP-70 deficiency constitutes an autosomal recessive inherited form of T+B+NK+ Combined Immunodeficiency (CID). Clinical features consistent with severe CID (SCID) could be present. Absence of CD8+T cells but normal number of non-functional CD4+T cells are phenotypic characteristics. After primary infection, human Herpesvirus-6 (HHV-6) induces a lifelong latent infection in humans. Even though it is a neurotropic virus encephalomyelitis is an uncommon clinical manifestation in immunocompetent individuals. We describe a 11 month-old girl with a ZAP-70 deficiency, presented as a SCID. The patient presented T lymphopenia, extremely low CD8+T-cells (0.25%-6/mm3) and low naïve CD4+CD45RA+ (18%) lymphocytes. Zap-70 protein expression was undetectable by flow cytometry. Mutational analysis by Sanger sequencing identified a homozygous frameshift variant (NM_001079 c.1510_1522 delAAGTGGTACGCAC) in ZAP-70 gene affecting the kinase domain, confirming the diagnosis. The patient developed in the course of her illness many meningeal signs that required several brain image studies and cerebral spinal fluid (CSF) punctures to reach the diagnosis of encephalopathy due to a HHV-6 infection. To sum up, we present an unusual Zap-70-deficient SCID patient who developed a life threatening CNS HHV-6 infection (seizures and progressive deterioration of the sensorium). HHV-6 is a certain possibility of severe CNS infection in primary immunodeficiencies (PID) and should be searched thoroughly, especially when neurological manifestations are present.
View Full Article  


 
search


E-Commerce
Buy this article
Buy this volume
Subscribe to this title
Shopping Cart

Quick Links
Login
Search Products
Browse in Alphabetical Order : Journals
Series/Books
Browse by Subject Classification : Journals
Series/Books

Miscellaneous
Ordering Information Ordering Information
Downloadable forms Downloadable Forms