Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Consequences of a Mutation in the UNC119 Gene for T Cell Function in Idiopathic CD4 Lymphopenia

Consequences of a Mutation in the UNC119 Gene for T Cell Function in Idiopathic CD4 Lymphopenia The activation of a T cell through T cell receptor (TCR) is fundamental to adaptive immune responses. The lymphocyte specific kinase (LCK) plays a central role in the initiation of signaling from the TCR. TCR activates LCK through the adaptor protein uncoordinated 119 (UNC119). A mutation of human UNC119 impairs LCK activation and is associated with inadequate signaling, diminished T cell responses to TCR stimulation, CD4 lymphopenia, and infections of viral, bacterial, and fungal origin. The above clinical and immunological findings meet the criteria of the idiopathic CD4 lymphopenia (ICL). The discovery of the UNC119 defect provides a molecular mechanism for a subset of patients with this previously unexplained disease. Here we review our recent findings on the UNC119 mutation in ICL. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Allergy and Asthma Reports Springer Journals

Consequences of a Mutation in the UNC119 Gene for T Cell Function in Idiopathic CD4 Lymphopenia

Download PDF
6 pages

Loading next page...
 
/lp/springer-journals/consequences-of-a-mutation-in-the-unc119-gene-for-t-cell-function-in-UqrMTyB1mi

References (32)

Publisher
Springer Journals
Copyright
Copyright © 2012 by Springer Science+Business Media, LLC
Subject
Medicine & Public Health; Allergology
ISSN
1529-7322
eISSN
1534-6315
DOI
10.1007/s11882-012-0281-4
pmid
22729960
Publisher site
See Article on Publisher Site

Abstract

The activation of a T cell through T cell receptor (TCR) is fundamental to adaptive immune responses. The lymphocyte specific kinase (LCK) plays a central role in the initiation of signaling from the TCR. TCR activates LCK through the adaptor protein uncoordinated 119 (UNC119). A mutation of human UNC119 impairs LCK activation and is associated with inadequate signaling, diminished T cell responses to TCR stimulation, CD4 lymphopenia, and infections of viral, bacterial, and fungal origin. The above clinical and immunological findings meet the criteria of the idiopathic CD4 lymphopenia (ICL). The discovery of the UNC119 defect provides a molecular mechanism for a subset of patients with this previously unexplained disease. Here we review our recent findings on the UNC119 mutation in ICL.

Journal

Current Allergy and Asthma Reports – Springer Journals

Published: Jun 23, 2012

There are no references for this article.