Helios expression in T-regulatory cells in patients with di George Syndrome
Language English Country Netherlands Media print-electronic
Document type Journal Article
- MeSH
- Biomarkers metabolism MeSH
- DiGeorge Syndrome immunology MeSH
- Child MeSH
- Adult MeSH
- Forkhead Transcription Factors metabolism MeSH
- Cohort Studies MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Infant, Newborn MeSH
- Cell Count MeSH
- Child, Preschool MeSH
- T-Lymphocytes, Regulatory immunology MeSH
- Thymus Gland immunology pathology MeSH
- Ikaros Transcription Factor genetics metabolism MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Infant, Newborn MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Names of Substances
- Biomarkers MeSH
- Forkhead Transcription Factors MeSH
- FOXP3 protein, human MeSH Browser
- IKZF2 protein, human MeSH Browser
- Ikaros Transcription Factor MeSH
PURPOSE: Syndrome diGeorge is associated amongst other clinical signs with various degrees of thymic dysplasia, related immunodeficiency and autoimmune disorders. Helios, a transcription factor from Ikaros family, has been proposed as a marker for thymus derived Tregs. We therefore examined Helios + Tregs in a cohort of patients with genetically proven diGeorge syndrome with typical T cell lymphopenia due to the thymic pathology. METHODS: T cells, FoxP3+ Tregs and Helios + FoxP3+ Tregs were examined in 52 samples from 37 patients. One patient with diGeorge/CHARGE syndrome with total thymic aplasia was also included. Statistical analysis was performed using a linear regression comparison. RESULTS: Total absolute Tregs were significantly lower in diGeorge patients as compared to controls in all age groups (0-20 years) (p = 0.0016). The difference was more expressed in the first four years of age. Relative Treg numbers expressed as the percentage of Tregs in CD4+ T-cells, however, were not different in patients and controls in all age groups (p = 0.661), neither could we find any significant difference in the percentage of Helios + Tregs between patients and controls (p = 0.238). Helios + Tregs were still present in a patient with diGeorge/CHARGE syndrome with complete athymia 7 years after partially matched unrelated repeated T lymphocytes infusions. CONCLUSION: Our findings show that while there was a significant decrease in absolute numbers of Tregs in patients with diGeorge syndrome, the relative percentage of this population did not differ between patients and controls. Low absolute Tregs thus reflected typical T cells lymphopenia in patients. Helios expression was not affected in diGeorge syndrome.
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