ESPE Abstracts

Objectives: HPP is a multisystem disorder caused by ALPL variants that lead to ALP deficiency and excessive inorganic pyrophosphate, which inhibits mineralization of bones and teeth. A range of symptoms is associated with HPP inherited in an autosomal dominant manner that can manifest at any stage of life, making diagnosis difficult. The traditional method of classifying HPP into different types based on the onset of symptoms (prenatal benign, perinat...

Background: The basic subset of T cells playing a major role in the pathogenesis of Hashimoto’s thyroiditis are CD8+T cells. The mechanism of disease initiation is dysfunction of natural Tregs leading to breakdown of the self-tolerance. The best known subset of natural Tregs are CD4+Foxp3+T, but CD8+T cells expressing CD122 were also recognized as functional Treg cells.Objective and hypotheses: The aimof the study was to evaluate the contribution of...

Introduction: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of the Fas apoptotic inhibitory molecule 2 (FAIM2) gene, the high-affinity alpha subunit (CD25) of the interleukin-2 receptor (IL-2RA) gene, the cytotoxic T cell antigen 4 (CTLA-4) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective: To estimate...

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Background: Glucocorticoids play a major role in the treatment of lymphoblastic lymphoma. However, supraphysiological glucocorticoid therapy may cause the secondary adrenal insufficiency.Presentation of case: A 11-year-old boy with T cell lymphoblastic lymphoma, treated according to COG A5971 protocol, experienced sudden onset of tremor and general weakness in the first day after tapering 28 days of glucocorticoid therapy. He had a moon face and pigmenta...

Background: Graves’ disease (GD) is almost always the cause of hyperthyroidism in children. Studies carried out for recent years confirm an important role of T regulatory cells (Tregs) in the development of autoimmune diseases. However, the interactions between T-cell response and Treg proliferation in GD is still poorly understood.Objective and hypotheses: The aim of this research was the assessment of the in vitro proliferation of Treg ce...

Background: Trisomy 21 is associated with an increased susceptibility to respiratory infections.Objective and hypotheses: For a more detailed characterization of the adaptive immune response, we analyzed the cellular and humoral immunity to specific pathogens in blood samples of 40 children with Down’s syndrome in comparison to 51 age-matched controls.Method: We quantitatively analyzed lymphocyte subpopulations using flow cyto...

Type 1 diabetes mellitus is autoimmune T cells mediated destruction of β-cells. Mesenchymal stem cells (MSCs) are considered a promising treatment for T1DM due to the strong immunosuppressive and regenerative capacity. However, the comprehensive mechanism is still unclear. Our previous study indicated that the transforming growth factor beta-induced gene (TGFBI) is highly expressed in human umbilical cord derived mesenchymal stem cells (hUC-MSCs), which is also implicated...

Introduction: Graves'disease (GD) is a polygenic and multifactorial disease.The innate immune system is a complex network of structured cells and proteins, including the Toll-like receptors (TLRs), which are also expressed on the cells of the adaptive immune system.The aim was to assess the relationship between the expression of TLR-2 on the surface of T CD4+ and CD8+ lymphocytes in pat...

Introduction: The incidence of autoimmune thyroid diseases (ATD) is constantly rising. Graves’ disease (GD) remains the most common cause of thyrotoxicosis in pediatric population, but the exact pathogenesis of GD is still not fully understood. The immunological basis of ATD assumes an imbalance between effector and regulatory T lymphocytes. B regulatory cells (Breg) are able to suppress the pro-inflammatory properties of effector T cells. Methimazole (M...