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Updated: Jun 17, 2025
High-throughput Quantitative Real-time RT-PCR Assay for Determining Expression Profiles of Types I and III Interferon Subtypes
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.
Abstract:
The horror autoinflammaticus derived from aberrant type I interferon secretion determines a special group of autoinflammatory diseases named interferonopathies. Diverse mechanisms involved in nucleic acids sensing, metabolizing or the lack of interferon signaling retro-control are responsible for the phenotypes associated to Aicardi-Goutières Syndrome (AGS), Proteasome-Associated Autoinflammatory Diseases (PRAAS), STING-Associated Vasculopathy with Infancy Onset (SAVI) and certain forms of monogenic Systemic lupus erythematosus (SLE). This review approaches interferonopathies from the basic immunogenetic concept to diagnosis and treatment.
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