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Published on: March 24, 2015
Interferonopathies: From concept to clinical practice
Leonardo Oliveira Mendonça1, Marie-Louise Frémond2
1Division of Clinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, Brazil; Discipline of Clinical Immunology and Allergy, Department of Internal Medicine, Universidade de Santo Amaro (UNISA), São Paulo, Brazil.
Aberrant type I interferon secretion causes interferonopathies, a group of autoinflammatory diseases. This review covers their immunogenetics, diagnosis, and treatment, including Aicardi-Goutières Syndrome and Systemic lupus erythematosus.
Area of Science:
- Immunology
- Genetics
- Rheumatology
Background:
- Autoinflammatory diseases are characterized by seemingly spontaneous inflammation.
- Aberrant type I interferon (IFN) secretion defines a subset known as interferonopathies.
- These conditions share underlying genetic and molecular mechanisms related to IFN dysregulation.
Purpose of the Study:
- To provide a comprehensive overview of interferonopathies.
- To explore the immunogenetic basis of these diseases.
- To discuss current diagnostic and therapeutic strategies.
Main Methods:
- Literature review of interferonopathies.
- Analysis of genetic and molecular mechanisms.
- Synthesis of clinical data on diagnosis and treatment.
Main Results:
- Interferonopathies result from defects in nucleic acid sensing, metabolism, or IFN signaling control.
- Key examples include Aicardi-Goutières Syndrome (AGS), Proteasome-Associated Autoinflammatory Diseases (PRAAS), STING-Associated Vasculopathy with Infancy Onset (SAVI), and monogenic Systemic Lupus Erythematosus (SLE).
- Diverse genetic mutations lead to type I IFN hyper-production, driving distinct clinical phenotypes.
Conclusions:
- Interferonopathies represent a distinct category of autoinflammatory disorders linked to type I IFN dysregulation.
- Understanding the immunogenetics is crucial for accurate diagnosis.
- Targeted therapies aimed at modulating IFN pathways offer therapeutic potential.
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