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Autoimmune Disorders01:29

Autoimmune Disorders

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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
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Interrogating Individual Autoreactive Germinal Centers by Photoactivation in a Mixed Chimeric Model of Autoimmunity
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Autoimmunity and inborn errors of immunity: a complex coexistence.

Ahamada Elamine1, Ibtihal Benhsaien1,2, Fatima Ailal1,2

  • 1Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University, Casablanca, Morocco.

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Summary

Inborn errors of immunity (IEI) often present with autoimmune diseases, not just infections. Early immune evaluation is crucial for diagnosing genetic immunodeficiencies, as autoimmunity can be an early warning sign.

Keywords:
autoimmunitydiagnostic approachimmune dysregulationimmune tolerance defectsinborn errors of immunity

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • Immune system dysregulation leads to inborn errors of immunity (IEI) and autoimmune diseases.
  • Autoimmune manifestations are common in IEI, but identifying underlying immunodeficiency is challenging.
  • Delayed diagnosis of genetic immunodeficiency occurs due to underestimation by clinicians.

Purpose of the Study:

  • Raise awareness of the link between autoimmunity and IEI.
  • Emphasize autoimmune manifestations as potential early signs of IEI.
  • Guide clinicians in diagnosing autoimmunity in the context of potential immunodeficiency.

Main Methods:

  • Narrative review of existing literature.
  • Analysis of pathogenic variants in genes related to immune tolerance.
  • Discussion of diagnostic challenges and approaches.

Main Results:

  • Autoimmunity in IEI results from defects in immune tolerance, allowing autoreactive lymphocytes to persist.
  • Pathogenic variants in immune tolerance genes are found in IEI patients with autoimmunity.
  • Autoimmune symptoms can precede or mask the diagnosis of IEI.

Conclusions:

  • Autoimmunity is a significant feature of IEI, linked to impaired immune tolerance.
  • Clinicians should consider IEI in patients with autoimmune disorders.
  • Systematic immunological evaluation is vital for timely IEI diagnosis.