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Interferons in human inborn errors of disease
Laurel Stine1, Sara Cahill1, Fiachra Humphries1
1Division of Innate Immunity, Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA.
Interferons (IFNs) are crucial for immunity but excessive production causes inflammatory diseases called interferonopathies. Genetic defects lead to immune deficiencies or overactive IFN responses, highlighting IFNs as therapeutic targets.
Area of Science:
- Immunology
- Molecular Biology
- Genetics
Background:
- Interferons (IFNs) are cytokines vital for antiviral and antitumor responses via interferon-stimulated genes (ISGs) and adaptive immunity.
- Dysregulated, prolonged IFN production disrupts homeostasis, causing severe inflammatory conditions.
- Genetic mutations in IFN pathway mediators cause immune deficiencies and susceptibility to viral infections.
Purpose of the Study:
- To review the role of interferons (IFNs) in human diseases.
- To explore genetic mechanisms behind excessive IFN production and immune deficiencies.
Main Methods:
- Review of existing evidence on IFN function in human disease.
- Analysis of genetic mechanisms underlying IFNopathies and immune deficiencies.
- Integration of whole genome sequencing data and signaling pathway elucidation.
Main Results:
- Excessive IFN production and ISG signatures are diagnostic of Mendelian inborn errors of immunity (interferonopathies).
- Loss-of-function mutations in IFN pathway mediators cause immune deficiencies and viral susceptibility.
- IFNs and their signaling pathways are identified as key therapeutic targets.
Conclusions:
- Interferons play a dual role in immunity, with dysregulation leading to significant pathology.
- Understanding the genetic basis of IFNopathies and immune deficiencies is crucial for diagnosis and treatment.
- Targeting IFN pathways offers promising therapeutic strategies for immune-related disorders.
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