Journal
CURRENT ALLERGY AND ASTHMA REPORTS
Volume 16, Issue 5, Pages -Publisher
CURRENT MEDICINE GROUP
DOI: 10.1007/s11882-016-0612-y
Keywords
Turner syndrome; Epigenetics; UTX; X chromosome; Tcell
Categories
Funding
- NIDDK NIH HHS [P01 DK058335] Funding Source: Medline
- NINDS NIH HHS [R01 NS079683] Funding Source: Medline
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available