xp deletion
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2021 ◽  
pp. 1-8
Author(s):  
Roopa Kanakatti Shankar

Turner syndrome (TS), characterized by the partial or complete absence of an X-chromosome, provides a unique insight into the role of the X-chromosome and the immune system. While women have a 10-fold higher incidence of autoimmune disease (AD) compared with men, the risk in women with TS is thought to be further doubled. TS is associated with a propensity for a wide variety of ADs that increase in incidence across the life span. Isochromosome Xq as well as isolated Xp deletion karyotypes may predispose to higher rates of AD in TS suggesting the impact of X-chromosome gene dosage. It is likely, however, that epigenetic changes across the genome and the hormonal milieu may also have a profound impact on the immune profile in TS. This review explores the immune phenotype and the spectrum of ADs in TS. Genotype-phenotype correlations are presented with a brief overview of the genetic and hormonal underpinnings.



2019 ◽  
Vol 32 (5) ◽  
pp. 479-488 ◽  
Author(s):  
Judith Stoklasova ◽  
Jirina Zapletalova ◽  
Zdenek Frysak ◽  
Vaclav Hana ◽  
Jan Cap ◽  
...  

Abstract Background Females with Turner syndrome (TS) are prone to develop autoimmune diseases (AIDs). The X chromosome contains several immune-related genes. Growth hormone (GH) and estrogens modulate the immune system. We aimed to clarify whether the loss of a specific X chromosome gene locus and the administration of GH and estradiol facilitate the development of AIDs in TS females. Methods Retrospective data on clinical course, AIDs, karyotype and treatment were analyzed from a cohort of 286 Czech females with TS (current age 2.8–43.3 years; median age 18.7 years). The karyotypes were sorted using two different classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused approach. Karyotype subgroups with a significantly higher prevalence of AIDs were further evaluated. Data of common therapies were correlated with the prevalence of AIDs. Results The most frequent AIDs were autoimmune thyroid disease (AITD; 37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups were prone to develop AIDs. Females with an isolated Xp deletion had a significantly higher prevalence of AITD and CD compared to all other individuals with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04, respectively). We observed no link between the mean age at initiation as well as the duration of GH and/or estrogen administration and the occurrence of AIDs. Conclusions Isolated Xp deletion contributes to the development of AIDs in TS patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this observation. Common therapies used in TS do not modify the risk of AIDs.



2018 ◽  
Vol 19 (3) ◽  
pp. 240-246 ◽  
Author(s):  
Ioannis Papoulidis ◽  
Annalisa Vetro ◽  
Vassilis Paspaliaris ◽  
Monika Ziegler ◽  
Katharina Kreskowski ◽  
...  


2017 ◽  
Vol 37 (9) ◽  
pp. 935-937 ◽  
Author(s):  
Bernard J. Ilagan ◽  
Megan D. Maxwell ◽  
Barbra M. Fisher ◽  
Jeri Milanovich ◽  
Renius Owen ◽  
...  


2014 ◽  
Vol 14 (1) ◽  
Author(s):  
Lucia Margari ◽  
Annalisa Colonna ◽  
Francesco Craig ◽  
Mattia Gentile ◽  
Giustina Giannella ◽  
...  


2012 ◽  
Vol 27 (10) ◽  
pp. 1273 ◽  
Author(s):  
Eun-Hae Cho ◽  
Sook-Young Kim ◽  
Jin-Kyung Kim
Keyword(s):  


2011 ◽  
Vol 31 (3) ◽  
pp. 706-711 ◽  
Author(s):  
Nurten KARA ◽  
Gülsen ÖKTEN ◽  
Şengül TURAL ◽  
Sevilhan ARTAN ◽  
Özlem SEZER ◽  
...  


2010 ◽  
Vol 1 (6) ◽  
pp. 311-315 ◽  
Author(s):  
K. Joost ◽  
P. Tammur ◽  
R. Teek ◽  
O. Žilina ◽  
M. Peters ◽  
...  


2009 ◽  
Vol 149A (3) ◽  
pp. 529-531
Author(s):  
Radhika Purushothaman ◽  
Sreenivas Dutt Gunturu ◽  
Henry Anhalt ◽  
Svetlana Ten ◽  
Andrew Friedman ◽  
...  


2008 ◽  
Vol 34 (5) ◽  
pp. 321-324 ◽  
Author(s):  
J. P. Fryns ◽  
A. Kleczkowska ◽  
P. Debucquoy ◽  
H. Berghe


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