Document type
ArticleVersion
Published versionPublication date
Publication license
Please use this identifier to cite or link to this item: https://hdl.handle.net/2445/176620
Editorial: Autoinflammatory Diseases: From Genes to Bedside
Journal Title
Director/Tutor
Journal ISSN
Volume Title
Related resource
Abstract
The year 2019 marked the 20th anniversary of the formal recognition of autoinflammatory diseases as a distinct group of rheumatological conditions, following the identification of the gene mutated in patients with a dominantly inherited periodic fever known as familial Hibernian fever (FHF) (1). This nosological concept was introduced by one of the founders of the field, Dr. Daniel Kastner. Prior to this time, the only recognized periodic fever disease was familial Mediterranean fever (FMF) and patients presenting with similar symptoms, irrespective of inheritance pattern, were suspected to have a variant FMF. Most patients, with exception for FMF, were treated with NSAID, glucocorticoids alone, or in a combination with immunosuppressive agents. These chronic life-long conditions negatively impacted patients' quality of life and were associated with significant morbidity and mortality, partially due to treatment-related side effects. The early advances in the field of autoinflammation were driven by the ascertainment of families with inflammatory phenotypes segregating either as a recessive (FMF) or dominantly (FHF) inherited trait. This allowed for linkage mapping, positional cloning and candidate gene screening even before the completion of human genome sequencing project in 2003. These gene-hunting projects were laborious and time-consuming, but nonetheless successful and led to identification of the first three genes associated with autoinflammatory diseases: MEFV, TNFRSF1A, and CIAS1/NLRP3.
Subject
Subject (English)
Citation
Citation
AKSENTIJEVICH, Ivona, SORIANO, Alessandra and HERNÁNDEZ RODRÍGUEZ, José. Editorial: Autoinflammatory Diseases: From Genes to Bedside. Frontiers in Immunology. 2020. Vol. 11, num. 117. ISSN 1664-3224. [consulted: 10 of June of 2026]. Available at: https://hdl.handle.net/2445/176620