Reversion Mosaicism in Primary Immunodeficiency Diseases

Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory ch...

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Autores principales:	Hanae Miyazawa, Taizo Wada
Formato:	article
Lenguaje:	EN
Publicado:	Frontiers Media S.A. 2021
Materias:	reversion reversion mosaicism somatic reversion primary immunodeficiency diseases selective advantage gene therapy Immunologic diseases. Allergy RC581-607
Acceso en línea:	https://doaj.org/article/3bf8ea17df2b45bc8610ba7bf3b170f1
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id	oai:doaj.org-article:3bf8ea17df2b45bc8610ba7bf3b170f1
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spelling	oai:doaj.org-article:3bf8ea17df2b45bc8610ba7bf3b170f12021-11-16T06:06:08ZReversion Mosaicism in Primary Immunodeficiency Diseases1664-322410.3389/fimmu.2021.783022https://doaj.org/article/3bf8ea17df2b45bc8610ba7bf3b170f12021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fimmu.2021.783022/fullhttps://doaj.org/toc/1664-3224Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory changes. In addition, intragenic recombination, chromosomal deletions, and copy-neutral loss of heterozygosity have been demonstrated in mosaic individuals. Revertant cells that have regained wild-type function may be associated with milder disease phenotypes in some immunodeficient patients with reversion mosaicism. Revertant cells can also be responsible for immune dysregulation. Studies identifying a large variety of genetic changes in the same individual further support a frequent occurrence of reversion mosaicism in primary immunodeficiency diseases. This phenomenon also provides unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. In this paper, we review the recent findings of reversion mosaicism in primary immunodeficiency diseases and discuss its clinical implications.Hanae MiyazawaTaizo WadaFrontiers Media S.A.articlereversionreversion mosaicismsomatic reversionprimary immunodeficiency diseasesselective advantagegene therapyImmunologic diseases. AllergyRC581-607ENFrontiers in Immunology, Vol 12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	reversion reversion mosaicism somatic reversion primary immunodeficiency diseases selective advantage gene therapy Immunologic diseases. Allergy RC581-607
spellingShingle	reversion reversion mosaicism somatic reversion primary immunodeficiency diseases selective advantage gene therapy Immunologic diseases. Allergy RC581-607 Hanae Miyazawa Taizo Wada Reversion Mosaicism in Primary Immunodeficiency Diseases
description	Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory changes. In addition, intragenic recombination, chromosomal deletions, and copy-neutral loss of heterozygosity have been demonstrated in mosaic individuals. Revertant cells that have regained wild-type function may be associated with milder disease phenotypes in some immunodeficient patients with reversion mosaicism. Revertant cells can also be responsible for immune dysregulation. Studies identifying a large variety of genetic changes in the same individual further support a frequent occurrence of reversion mosaicism in primary immunodeficiency diseases. This phenomenon also provides unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. In this paper, we review the recent findings of reversion mosaicism in primary immunodeficiency diseases and discuss its clinical implications.
format	article
author	Hanae Miyazawa Taizo Wada
author_facet	Hanae Miyazawa Taizo Wada
author_sort	Hanae Miyazawa
title	Reversion Mosaicism in Primary Immunodeficiency Diseases
title_short	Reversion Mosaicism in Primary Immunodeficiency Diseases
title_full	Reversion Mosaicism in Primary Immunodeficiency Diseases
title_fullStr	Reversion Mosaicism in Primary Immunodeficiency Diseases
title_full_unstemmed	Reversion Mosaicism in Primary Immunodeficiency Diseases
title_sort	reversion mosaicism in primary immunodeficiency diseases
publisher	Frontiers Media S.A.
publishDate	2021
url	https://doaj.org/article/3bf8ea17df2b45bc8610ba7bf3b170f1
work_keys_str_mv	AT hanaemiyazawa reversionmosaicisminprimaryimmunodeficiencydiseases AT taizowada reversionmosaicisminprimaryimmunodeficiencydiseases
_version_	1718426661685297152

Reversion Mosaicism in Primary Immunodeficiency Diseases

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