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Related Experiment Video

Updated: Jul 9, 2025

Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
07:40

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Uveitis Associated with Monogenic Autoinflammatory Syndromes in Children.

P Maghsoudlou1, A R Abraham1, M El-Ashry2

  • 1Academic Unit of Ophthalmology, Translational Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.

Ocular Immunology and Inflammation
|December 5, 2023
PubMed
Summary

Monogenic autoinflammatory syndromes (MAISs) stem from genetic defects causing immune system overactivation. This review highlights MAIS clinical features, especially uveitis, and discusses treatment strategies.

Keywords:
Autoinflammationcytokineinflammasomeinflammationuveitis

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Area of Science:

  • Immunology
  • Genetics
  • Ophthalmology

Background:

  • Monogenic autoinflammatory syndromes (MAISs) are rare genetic disorders.
  • They result from pathogenic variants in innate immune genes.
  • Dysregulated inflammasome activation is a key feature.

Purpose of the Study:

  • To review the clinical manifestations of MAIS.
  • To specifically focus on the association between MAIS and uveitis.
  • To evaluate current and emerging treatment options for MAIS.

Main Methods:

  • Literature review of MAIS and uveitis.
  • Analysis of genetic and molecular pathways involved in MAIS.
  • Evaluation of treatment efficacy and impact on cytokine pathways.

Main Results:

  • MAIS presents with diverse clinical features, including inflammatory conditions like uveitis.
  • Genetic variants in specific innate immune genes are identified as causative.
  • Treatment strategies target molecular and cytokine pathways to control inflammation.

Conclusions:

  • Early recognition and diagnosis of MAIS are crucial for effective management.
  • Uveitis is a significant extra-intestinal manifestation of MAIS.
  • Targeted therapies show promise in managing MAIS and associated inflammatory conditions.