Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature

Klinefelter syndrome (KS) is a sex aneuploidy abnormality comprised by one additional X chromosome. It occurs in 1:500–1000 male births. As with women, an increased susceptibility to autoimmune diseases is present. We report three cases of coexisting EoE and KS for a prevalence of 2% in our EoE clin...

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Autores principales: Ghisa, Matteo, Savarino, Vincenzo, Buda, Andrea, Katzka, David A., Savarino, Edoardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855470/
https://www.ncbi.nlm.nih.gov/pubmed/35186122
http://dx.doi.org/10.1177/17562848221076888
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author Ghisa, Matteo
Savarino, Vincenzo
Buda, Andrea
Katzka, David A.
Savarino, Edoardo
author_facet Ghisa, Matteo
Savarino, Vincenzo
Buda, Andrea
Katzka, David A.
Savarino, Edoardo
author_sort Ghisa, Matteo
collection PubMed
description Klinefelter syndrome (KS) is a sex aneuploidy abnormality comprised by one additional X chromosome. It occurs in 1:500–1000 male births. As with women, an increased susceptibility to autoimmune diseases is present. We report three cases of coexisting EoE and KS for a prevalence of 2% in our EoE clinic. Possible changes in gene expression in KS are reviewed, some of which may be related to activation of genes located on the X chromosome. We postulate that these X-activated genes in patients with KS yield a greater likelihood of developing EoE because of their genetic predisposition to autoimmune diseases.
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spelling pubmed-88554702022-02-19 Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature Ghisa, Matteo Savarino, Vincenzo Buda, Andrea Katzka, David A. Savarino, Edoardo Therap Adv Gastroenterol Case Series Klinefelter syndrome (KS) is a sex aneuploidy abnormality comprised by one additional X chromosome. It occurs in 1:500–1000 male births. As with women, an increased susceptibility to autoimmune diseases is present. We report three cases of coexisting EoE and KS for a prevalence of 2% in our EoE clinic. Possible changes in gene expression in KS are reviewed, some of which may be related to activation of genes located on the X chromosome. We postulate that these X-activated genes in patients with KS yield a greater likelihood of developing EoE because of their genetic predisposition to autoimmune diseases. SAGE Publications 2022-02-15 /pmc/articles/PMC8855470/ /pubmed/35186122 http://dx.doi.org/10.1177/17562848221076888 Text en © The Author(s), 2022 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Series
Ghisa, Matteo
Savarino, Vincenzo
Buda, Andrea
Katzka, David A.
Savarino, Edoardo
Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title_full Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title_fullStr Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title_full_unstemmed Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title_short Toward a potential association between eosinophilic esophagitis and Klinefelter syndrome: a case series and review of the literature
title_sort toward a potential association between eosinophilic esophagitis and klinefelter syndrome: a case series and review of the literature
topic Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855470/
https://www.ncbi.nlm.nih.gov/pubmed/35186122
http://dx.doi.org/10.1177/17562848221076888
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