UPSC MainsMEDICAL-SCIENCE-PAPER-I201710 Marks
Q36.

Define immunological tolerance and discuss its role in autoimmunity, with one example.

How to Approach

This question requires a clear understanding of immunological tolerance – both central and peripheral – and its breakdown leading to autoimmunity. The answer should define immunological tolerance, explain the mechanisms involved, and then specifically link its failure to the development of autoimmunity. A concrete example, like Type 1 Diabetes, will strengthen the response. Structure the answer by first defining tolerance, then detailing its types, explaining how it’s maintained, and finally, how its disruption causes autoimmunity, concluding with the chosen example.

Model Answer

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Introduction

Immunological tolerance is the deliberate inactivation of immune responses to self-antigens, preventing the immune system from attacking the body’s own tissues. This is a crucial mechanism for maintaining homeostasis and preventing autoimmune diseases. The development of tolerance isn’t a single event but a complex process involving both central and peripheral mechanisms. Failure of these mechanisms leads to a loss of self-tolerance, resulting in the activation of self-reactive lymphocytes and subsequent autoimmune pathology. Understanding the intricacies of immunological tolerance is paramount in comprehending the pathogenesis of autoimmune disorders, which are increasingly prevalent globally.

Defining Immunological Tolerance

Immunological tolerance can be defined as the unresponsiveness of the immune system to specific antigens. This unresponsiveness can be induced in various ways, and is essential for preventing reactions against self-antigens, harmless environmental antigens, and even the commensal microbiota.

Types of Immunological Tolerance

Central Tolerance

Central tolerance occurs during lymphocyte development in the primary lymphoid organs – the thymus for T cells and the bone marrow for B cells. It involves the deletion or inactivation of self-reactive lymphocytes.

  • T Cell Central Tolerance: Immature T cells (thymocytes) undergo positive and negative selection in the thymus. Positive selection ensures T cells recognize MHC molecules, while negative selection eliminates T cells that strongly bind to self-antigens presented on MHC.
  • B Cell Central Tolerance: B cells that strongly bind to self-antigens in the bone marrow undergo receptor editing (changing their antigen receptor), clonal deletion (apoptosis), or become anergic (unresponsive).

Peripheral Tolerance

Peripheral tolerance operates in the secondary lymphoid organs and peripheral tissues, controlling self-reactive lymphocytes that escaped central tolerance. Several mechanisms contribute to peripheral tolerance:

  • Anergy: Lymphocytes become unresponsive to antigen stimulation due to a lack of co-stimulatory signals.
  • Suppression by Regulatory T cells (Tregs): Tregs (CD4+CD25+FoxP3+) actively suppress the activation and function of other lymphocytes, including self-reactive ones.
  • Activation-Induced Cell Death (AICD): Repeated stimulation of lymphocytes can lead to apoptosis.
  • Ignorance: Some self-antigens are sequestered in immunologically privileged sites (e.g., brain, eye) and are not readily accessible to the immune system.

Autoimmunity: Breakdown of Tolerance

Autoimmunity arises when immunological tolerance fails, leading to the immune system attacking the body’s own tissues. This can occur due to defects in central or peripheral tolerance mechanisms.

  • Genetic Predisposition: Certain genes, particularly those involved in MHC and immune regulation (e.g., PTPN22, IL2RA), increase susceptibility to autoimmunity.
  • Environmental Triggers: Infections, exposure to certain chemicals, and even stress can trigger autoimmunity in genetically predisposed individuals. Molecular mimicry, where microbial antigens resemble self-antigens, can initiate an autoimmune response.
  • Defects in Regulatory T Cells: Dysfunction or reduced numbers of Tregs can impair peripheral tolerance, allowing self-reactive lymphocytes to become activated.

Example: Type 1 Diabetes

Type 1 Diabetes (T1D) is an autoimmune disease characterized by the destruction of insulin-producing beta cells in the pancreatic islets of Langerhans.

In T1D, a combination of genetic susceptibility (particularly HLA-DR3 and HLA-DR4) and environmental triggers (likely viral infections) leads to the activation of self-reactive T cells that target beta cell antigens (e.g., glutamic acid decarboxylase - GAD65). These T cells infiltrate the pancreas, causing inflammation (insulitis) and ultimately beta cell destruction. The loss of beta cells results in insulin deficiency and hyperglycemia. Peripheral tolerance mechanisms, specifically Treg function, are often impaired in individuals with T1D, contributing to the unchecked autoimmune response.

Mechanism of Tolerance Breakdown in Type 1 Diabetes
Central Tolerance May be incomplete, allowing some self-reactive T cells to escape the thymus.
Peripheral Tolerance (Tregs) Reduced Treg numbers or impaired function, leading to insufficient suppression of self-reactive T cells.
Antigen Presentation Beta cell antigens are presented by antigen-presenting cells, activating self-reactive T cells.

Conclusion

Immunological tolerance is a fundamental process for maintaining immune homeostasis and preventing autoimmunity. Its breakdown, whether due to genetic predisposition, environmental factors, or defects in regulatory mechanisms, can lead to the development of debilitating autoimmune diseases like Type 1 Diabetes. Further research into the mechanisms of tolerance and its regulation is crucial for developing effective therapies to prevent and treat autoimmune disorders, potentially restoring self-tolerance and halting disease progression.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Molecular Mimicry
A phenomenon where epitopes of pathogens share structural similarity with self-antigens, leading to cross-reactivity and autoimmune responses.
Immunologically Privileged Sites
These are areas of the body (e.g., brain, eye, testes) where the immune response is suppressed, protecting them from immune attack. This is due to physical barriers, lack of lymphatic drainage, and the expression of immunosuppressive molecules.

Key Statistics

Approximately 5-8% of the global population is affected by autoimmune diseases (Source: National Institutes of Health, NIH, 2023 - knowledge cutoff).

Source: National Institutes of Health (NIH)

The prevalence of Type 1 Diabetes is estimated to be around 0.3-0.4% in the general population (Source: JDRF, 2022 - knowledge cutoff).

Source: Juvenile Diabetes Research Foundation (JDRF)

Examples

Systemic Lupus Erythematosus (SLE)

SLE is a chronic autoimmune disease that can affect multiple organs, including the skin, joints, kidneys, and brain. It is characterized by the production of autoantibodies against various self-antigens, such as DNA and nuclear proteins.

Frequently Asked Questions

What is the role of MHC in autoimmunity?

MHC molecules present self-antigens to T cells. Certain MHC alleles are strongly associated with increased susceptibility to specific autoimmune diseases, suggesting they play a critical role in antigen presentation and T cell activation.

Topics Covered

ImmunologyPathologyAutoimmunityToleranceImmune System