Abstract
Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulation of inflammation. The available literature includes numerous reviews, which address the principle diseases, but we wanted to focus on the most recent rare syndromes. A comprehensive review is thus provided, including taxonomic, genetic, and epidemiological data, along with characteristics defining positive and differential diagnoses and treatment. We believe that this update will assist physicians in correctly naming their patient’s illness. This is an essential step for the effective and targeted management of an orphan disease.
Highlights
Autoinflammatory diseases arise from disorders of the innate immune system [1]
The prototype disease is familial Mediterranean fever (FMF), which belongs to the group of hereditary recurrent fevers
Subsequent to the identification of causal mutations in monogenic autoinflammatory diseases, several sequence variants in the causative genes were found to act as susceptibility factors in the more common multifactorial diseases such as rheumatoid arthritis or multiple sclerosis [7]
Summary
Autoinflammatory diseases arise from disorders of the innate immune system [1]. The prototype disease is familial Mediterranean fever (FMF), which belongs to the group of hereditary recurrent fevers. The genetic defect of this disease was identified in 2008 [18] as a mutation in the gene encoding NLR pyrin domain-containing protein 12 (NLRP12) belonging to the intracellular Nod-like receptor (NLR) family. This protein is an intracellular sensor of the innate immune system, that regulates inflammatory processes through inhibition of nuclear factor kappa B (NF-κB) [18] and IL1β [16] signaling. Deficiency of Interleukin 1 Receptor Antagonist (DIRA) Sterile multifocal osteomyelitis with periostitis and pustulosis (OMPP) is more commonly referred to as
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
