X-chromosome inactivation analysis in a female carrier of FOXP3 mutation (original) (raw)

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Department of Sciences of Reproduction and Development IRCCS Burlo Garofolo

, Trieste

Correspondence: Alberto Tommasini, Dipartimento di Scienze della Riproduzione e dello Sviluppo, IRCCS Burlo Garofolo, V dell'Istria 65/1, 34100 Trieste, Italy. E-mail: tommasin@burlo.trieste.it

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Department of Paediatrics, University of Brescia

,

Italy

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Department of Paediatrics, University of Brescia

,

Italy

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Department of Paediatrics, University of Brescia

,

Italy

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,

Department of Sciences of Reproduction and Development IRCCS Burlo Garofolo

, Trieste

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,

Department of Sciences of Reproduction and Development IRCCS Burlo Garofolo

, Trieste

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,

Department of Paediatrics, University of Brescia

,

Italy

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Department of Sciences of Reproduction and Development IRCCS Burlo Garofolo

, Trieste

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Published:

19 September 2002

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A TOMMASINI, S FERRARI, D MORATTO, R BADOLATO, M BONIOTTO, D PIRULLI, L D NOTARANGELO, M ANDOLINA, X-chromosome inactivation analysis in a female carrier of FOXP3 mutation, Clinical and Experimental Immunology, Volume 130, Issue 1, October 2002, Pages 127–130, https://doi.org/10.1046/j.1365-2249.2002.01940.x
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SUMMARY

Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX) is a serious disease arising from mutations in FOXP3. This gene codifies for a transcription factor whose dysfunction results in hyperactivation of T cells. It is not clear, however, why an intermediate phenotype is not seen in heterozygous females, who are completely healthy. In order to address this question, we investigated X-chromosome inactivation in peripheral blood lymphocytes from a heterozygous female with a child affected by IPEX. No preferential inactivation was shown in freshly sorted CD4+, CD8+, CD19+ cells or in IL-2 cultured CD4 and CD8 T cells, indicating that peripheral blood lymphocytes in these women are randomly selected. Moreover, only one single FOXP3 transcript was expressed by CD4 T cell clones analysed by RT-PCR, confirming that this gene is subject to X- inactivation. We hypothesize that hyper-activation of T cell in carriers of FOXP3 mutations is regulated by the presence of normal regulatory T cells.

© 2002 Blackwell Science Ltd

This article is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model (https://academic.oup.com/journals/pages/open\_access/funder\_policies/chorus/standard\_publication\_model)

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