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- Title
X-chromosome inactivation analysis in a female carrier of FOXP3 mutation.
- Authors
Tommasini, A; Ferrari, S; Moratto, D; Badolato, R; Boniotto, M; Pirulli, D; Notarangelo, L D; Andolina, M
- Abstract
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.
- Publication
Clinical and experimental immunology, 2002, Vol 130, Issue 1, p127
- ISSN
0009-9104
- Publication type
Journal Article
- DOI
10.1046/j.1365-2249.2002.01940.x