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Update on new autoinflammatory disorders from the 2024 Pediatric Rheumatology European Society Congress
1Division of Rheumatology, Cincinnati Children's Hospital Medical Center and Department of Pediatrics, University of Cincinnati College of Medicine, MLC 4010, 3333 Burnet Ave, Cincinnati, OH, 45208, USA. grant.schulert@cchmc.org.
Pediatric Rheumatology Online Journal
|October 29, 2025
Summary
Recent discoveries in autoinflammation include new genes like SHARPIN and OTULIN causing ubiquitination disorders, PMVK mutations mimicking mevalonate kinase deficiency, and ARF1/REXO2 causing interferonopathies.
Area of Science:
- Pediatric Rheumatology
- Immunology
- Genetics
Background:
- Periodic fever syndromes have evolved into the broader concept of autoinflammation.
- Significant scientific advancements have occurred since the molecular characterization of these syndromes.
Purpose of the Study:
- To review key discoveries in autoinflammation presented at the 2024 Pediatric Rheumatology European Society Congress.
- To highlight new genes, diseases, molecular mechanisms, and omics studies in the field.
Main Methods:
- Review of presentations from the 2024 Pediatric Rheumatology European Society Congress.
- Focus on molecular characterization and genetic discoveries in autoinflammatory diseases.
Main Results:
- Identification of novel genetic causes for autoinflammatory disorders, including SHARPIN, OTULIN, PMVK, ARF1, and REXO2 mutations.
- Elucidation of new molecular mechanisms and mutations in established conditions like COPA syndrome, Aicardi-Goutières syndrome, PLAID, and NLRP3-AID.
- Advances in understanding STING1-associated vasculopathy with onset in infancy (SAVI) and haploinsufficiency of A20 (HA20) through molecular and omics studies.
Conclusions:
- The field of autoinflammation is rapidly advancing with new genetic discoveries and insights into disease mechanisms.
- Continued research, including omics studies, is crucial for understanding and potentially treating these complex conditions.
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