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Graves' Disease I: Introduction01:28

Graves' Disease I: Introduction

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Graves' disease is an autoimmune disorder that causes hyperthyroidism, or overactivity of the thyroid gland. It results from autoantibodies called thyroid-stimulating immunoglobulins (TSIs), which bind to thyroid-stimulating hormone (TSH) receptors, leading to overstimulation of hormone production and a hypermetabolic state.EtiologyAlthough considered idiopathic, Graves’ disease has well-established contributing factors. There is a strong genetic component, with increased prevalence...
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Graves Disease II: Pathophysiology01:24

Graves Disease II: Pathophysiology

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Graves’ disease is an autoimmune disorder characterized by the production of thyroid-stimulating immunoglobulins (TSI) that activate TSH receptors, leading to excessive synthesis and release of thyroid hormones (T3 and T4) and resulting in hyperthyroidism.Among all causes of hyperthyroidism, Graves’ disease is the most common and can happen at any age, though it is more frequent in women. It produces a hypermetabolic state with features such as weight loss, tachycardia, tremor,...
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Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

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Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
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Hypothyroidism is a disorder characterized by insufficient production of thyroid hormones, which regulate metabolism, energy balance, and multiple organ systems.TypesHypothyroidism is classified based on the level of dysfunction. Primary hypothyroidism results from intrinsic thyroid gland dysfunction, causing reduced hormone production despite normal or increased stimulation. Secondary hypothyroidism arises from inadequate thyroid-stimulating hormone (TSH) secretion by the pituitary. Tertiary...
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Hyperthyroidism II: Pathophysiology01:27

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Hyperthyroidism is a hypermetabolic state caused by elevated levels of thyroid hormones, triiodothyronine (T3) and thyroxine (T4). It results from dysregulation at the thyroid, pituitary, or immune system level and affects multiple organ systems.PathophysiologyThe most common cause of hyperthyroidism is Graves’ disease, an autoimmune disorder in which antibodies, specifically thyroid-stimulating antibodies (TSAb), a subtype of TSH receptor antibodies (TRAb), bind to and activate TSH...
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Type I Diabetes I: Introduction01:12

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Type 1 diabetes mellitus is a chronic metabolic disorder characterized by an absolute deficiency of insulin resulting from the autoimmune destruction of pancreatic β-cells. Although it can occur at any age, it is most commonly diagnosed in childhood, adolescence, or early adulthood. The loss of insulin production impairs cellular glucose uptake, resulting in persistent hyperglycemia and necessitating lifelong insulin therapy.Autoimmune Destruction of β-CellsThe hallmark of type 1...
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Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
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CD3G gene defects in familial autoimmune thyroiditis.

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CD3γ deficiency, a primary immunodeficiency, presents with varied symptoms despite identical CD3G gene mutations. Autoimmunity is frequent, even in carriers, suggesting CD3G

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Area of Science:

  • Immunology
  • Genetics

Background:

  • CD3γ deficiency is a rare primary immunodeficiency affecting T-cell function.
  • The CD3G gene encodes the gamma subunit of the T-cell receptor complex, crucial for T-cell signaling.

Observation:

  • This study investigates five CD3γ-deficient siblings from two families with a shared homozygous CD3G mutation (c.80-1G>C).
  • Patients exhibited diverse clinical presentations and cellular phenotypes, including combined T-B+NK+ immunodeficiency.
  • Autoimmunity was a prominent feature, observed in all five patients and frequently in heterozygous carriers.

Findings:

  • All patients presented with at least one autoimmune condition, including autoimmune thyroiditis, hemolytic anemia, and immune thrombocytopenia.
  • Low CD3(+) TCRαβ+ T cell percentages were noted in all patients.
  • A significant prevalence of autoimmunity (67%) was observed in heterozygous carriers, indicating a potential role for CD3G in immune regulation beyond complete deficiency.

Implications:

  • The findings suggest CD3G should be considered a candidate gene for autoimmune disorders.
  • CD3γ deficiency warrants consideration within the differential diagnosis of primary immunodeficiencies presenting with autoimmune manifestations.
  • Further research into the role of CD3γ in immune homeostasis and autoimmunity is warranted.