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Current Allergy and Asthma Reports
Published in: Current Allergy and Asthma Reports 5/2016

01-05-2016 | Immune Deficiency and Dysregulation (DP Huston and C Kuo, Section Editors)

Epigenetic Dysfunction in Turner Syndrome Immune Cells

Authors: Bradly J. Thrasher, Lee Kyung Hong, Jason K. Whitmire, Maureen A. Su

Published in: Current Allergy and Asthma Reports | Issue 5/2016

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Abstract

Turner syndrome (TS) is a chromosomal condition associated with partial or complete absence of the X chromosome that involves characteristic findings in multiple organ systems. In addition to well-known clinical characteristics such as short stature and gonadal failure, TS is also associated with T cell immune alterations and chronic otitis media, suggestive of a possible immune deficiency. Recently, ubiquitously transcribed tetratricopeptide repeat on the X chromosome (UTX), a histone H3 lysine 27 (H3K27) demethylase, has been identified as a downregulated gene in TS immune cells. Importantly, UTX is an X-linked gene that escapes X-chromosome inactivation and thus is haploinsufficient in TS. Mice with T cell-specific UTX deficiency have impaired clearance of chronic viral infection due to decreased frequencies of T follicular helper (Tfh) cells, which are critical for B cell antibody generation. In parallel, TS patients have decreased Tfh frequencies in peripheral blood. Together, these findings suggest that haploinsufficiency of the X-linked UTX gene in TS T cells underlies an immune deficit, which may manifest as increased predisposition to chronic otitis media.
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Metadata
Title
Epigenetic Dysfunction in Turner Syndrome Immune Cells
Authors
Bradly J. Thrasher
Lee Kyung Hong
Jason K. Whitmire
Maureen A. Su
Publication date
01-05-2016
Publisher
Springer US
Published in
Current Allergy and Asthma Reports / Issue 5/2016
Print ISSN: 1529-7322
Electronic ISSN: 1534-6315
DOI
https://doi.org/10.1007/s11882-016-0612-y

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