Helios Expression in T-regulatory Cells in Patients with di George Syndrome

Abstract

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.

Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

“…A decreased frequency of Treg or a reduction in absolute counts of Treg has been reported in patients with 22q11DS . An extensive analysis of immune status of ten asymptomatic children affected by 22q11DS showed an increase in memory/activated phenotype of Treg .…”

“…Our data confirm the reduction in absolute counts of Treg in 22q11DS children compared with healthy controls . This quantitative decrement, more evident as the age increases, might compromise the efficacy of their suppressive role and contribute to the development of autoimmune phenomena.…”

“…We observed a high prevalence (18%) of autoimmunity, mostly thrombocytopenia, anemia, and arthritis with an earlier onset, according to recent reports . Although our preliminary results did not show any association between Treg and autoimmunity, a larger cohort should be analyzed to better define the Treg role in autoimmunity in these patients.…”

Graves' Disease in Pediatric and Elderly Patients with 22q11.2 Deletion Syndrome

“…Two reports noted that patients with 22qDS had lower numbers of Treg cells in comparison to the control group (13,14). A separate report showed decreased numbers of Tregs in 22qDS patients, especially pediatric patients, thus the decrease in the number of Tregs may have been related to the earlier onset of GD in case 1 (15). 4) The functional characteristics, such as a Th1/Th2 balance of the CD4+ T-cells that respond to TSHR epitopes may vary between each patient.…”

“…Thymus dysgenesis in 22qDS leads to failure in the negative selection of immunogenic T-cell (12); thus, it may have been associated with the onset of GD in both cases. In case 1, the decreased Treg numbers (13-15) and the inheritance of HLA-DR14, which is a known risk factor for GD in Japanese individuals (16), may have affected the early onset of GD. In addition, DR15, a risk allele among the Han ethnic group in Taiwan, which is geographically close to Japan (17), was observed in both cases-this may have also been related to the development of GD.…”