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Updated: Aug 6, 2026
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High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
Published on: March 24, 2015
Type I interferonopathies: 15 years after the concept-news and views
Samira Khaldi-Plassart1, Isabelle Melki2,3, Marie-Louise Frémond3,4
1National Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), Hospices Civils de Lyon, Paediatric Nephrology, Rheumatology, Dermatology Unit, Woman-Mother and Children University Hospital, BRON Cedex, ERN RITA.
Current Opinion in Rheumatology
|July 18, 2026
Summary
Type I interferonopathies (IFNp-I) are rare inborn errors of immunity caused by chronic type I interferon (IFN-I) pathway activation. Recent advances reveal novel genetic mechanisms, diverse clinical presentations, and targeted therapies for these conditions.
Area of Science:
- Immunology
- Genetics
- Rare Diseases
Background:
- Genetic autoinflammatory conditions are a growing area of research.
- Type I interferonopathies (IFNp-I) are inborn errors of immunity characterized by chronic type I interferon (IFN-I) signaling pathway activation.
Purpose of the Study:
- To provide recent insights into the genetic mechanisms of IFNp-I.
- To discuss the expanding clinical phenotypes associated with IFNp-I.
- To review current and potential therapeutic options for IFNp-I.
Main Methods:
- Review of novel findings in disease mechanisms, including the role of PTP1B in STING and IFNAR signaling, and endosomal TLR pathways.
- Discussion of expanding phenotypic spectrum through case reports and cohort studies.
- Exploration of clinical expressivity, non-penetrance, and variability using genetic insights.
Main Results:
- Novel insights into disease mechanisms involving PTP1B, STING, IFNAR, and endosomal TLR pathways.
- Expanded understanding of the phenotypic spectrum and clinical expressivity, including non-penetrance.
- Discussion of current targeted therapies and potential future treatments.
Conclusions:
- IFNp-I require consideration across a wide range of clinical phenotypes.
- Next-generation sequencing facilitates genetic diagnosis and targeted treatment implementation.
- Advances reduce diagnostic uncertainty and enable genetic counseling for rare interferonopathies.
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