Consequences of a mutation in the UNC119 gene for T cell function in idiopathic CD4 lymphopenia.

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.

authors

Gorska MM,Alam R

doi

10.1007/s11882-012-0281-4

subject

Has Abstract

pub_date

2012-10-01 00:00:00

pages

396-401

issue

5

eissn

1529-7322

issn

1534-6315

journal_volume

12

pub_type

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