Abstract
The risk of autoimmune diseases (AD) in patients with Turner Syndrome (TS) is twice higher than in the general female population and four times higher than in the male population. The causes of the increased incidence of AD in TS are still under discussion. We hypothesized the presence of a specific humoral, cellular, and regulatory T cell (Treg) immunity profile which predisposes to AD, disorders of immunity, and disorders of immune regulation. The study encompassed 37 girls with TS and with no signs of infection. The control group included 11 healthy girls with no hormonal disorders. A medical history focused on AD and immunity disorders was taken from all participants. The levels of: immunoglobulins IgG, IgA, IgM, total lymphocytes, lymphocytes subpopulations CD3+, CD4+, CD8+, CD19+, natural killer cells, Treg cells (CD4+ CD25+ CD127- FOXP3+), anti-inflammatory cytokines (interleukin-10, transforming growth factor-β), anti-nuclear antibodies, glutamic acid decarboxylase (GAD65 Abs), anti-thyroid peroxidase (anti-TPO Ab), and anti-thyroglobulin (anti-TG Ab) autoantibodies were determined in each participant. The mean age and BMI in the TS group and in controls were comparable (11.9 ± 4.1 vs. 12.5 ± 4.0 years; 19.2 ± 3.4 vs. 19.7 ± 4.6, p > 0.05). Mean hSDS was significantly higher in controls (-2.2 ± 0.9 vs. -0.4 ± 1.5, p < 0.0001). AD and recurrent otitis media with complications were previously confirmed in 9 (24.3%) and 10 (27.0%) girls with TS. The TS group had significantly lower levels of IgG (p = 0.02), lower%CD4 (p < 0.001) and a significantly lower CD4:CD8 ratio than the controls (p < 0.001). There were no differences in mean Treg% between girls with TS and healthy controls. However, comparing Treg% between the TS group with coexisting autoimmunity and the remaining participants, a statistically significant difference was observed (2.09 ± 0.5 vs. 2.77 ± 1.6, p = 0.048). Patients with iXq had lower CD4% and more frequently had positive anti-TPO Ab and anti-TG Ab compared to the remaining girls with TS and controls (p = 0.001, p < 0.001, p = 0.01). TS predisposes to AD, especially if associated with coexisting iXq. Our preliminary findings show that patients with TS may present a specific profile of humoral and cellular immunity markers, different from healthy girls.
Highlights
With an incidence of 1 in 2,000–2,500 liveborn female infants, Turner Syndrome (TS) is one of the most frequent chromosomal aberrations
The pathogenesis of autoimmune diseases (AD) is complex and depends on numerous mechanisms, such as family factors connected with the HLA haplotype, genetic factors related to single nucleotide polymorphism or cytotoxic T-lymphocyte-associated protein-4 (CTLA-4), present for example on regulatory T cells (Tregs)
Every fourth girl with TS in our study group was diagnosed with an AD
Summary
With an incidence of 1 in 2,000–2,500 liveborn female infants, Turner Syndrome (TS) is one of the most frequent chromosomal aberrations. It is characterized by short stature, incorrect gonadal development with puberty disorders, kidney, and circulatory system diseases, recurrent otitis, impaired hearing and an increased incidence of autoimmune diseases (AD). The pathogenesis of AD is complex and depends on numerous mechanisms, such as family factors connected with the HLA haplotype, genetic factors related to single nucleotide polymorphism or cytotoxic T-lymphocyte-associated protein-4 (CTLA-4), present for example on regulatory T cells (Tregs). One of the mechanisms leading to disorders of immune regulation is lack of Tregs-dependent immunos uppression [4]
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