Objective: To report on the demographic data from the first 18 months of enrollment to an international registry on autoinflammatory diseases in the context of the Eurofever project.
Methods: A web-based registry collecting baseline and clinical information on autoinflammatory diseases and related conditions is available in the member area of the PRINTO web-site. Anonymised data were collected with standardised forms.
Results: 1880 (M:F=916:964) individuals from 67 centers in 31 countries have been entered in the Eurofever registry. Most of the patients (1388; 74%), reside in western Europe, 294 (16%) in the eastern and southern Mediterranean region (Turkey, Israel, North Africa), 106 (6%) in eastern Europe, 54 in Asia, 27 in South America and 11 in Australia. In total 1049 patients with a clinical diagnosis of a monogenic autoinflammatory diseases have been enrolled; genetic analysis was performed in 993 patients (95%): 703 patients have genetically confirmed disease and 197 patients are heterozygous carriers of mutations in genes that are mutated in patients with recessively inherited autoinflammatory diseases. The median diagnosis delay was 7.3 years (range 0.3-76), with a clear reduction in patients born after the identification of the first gene associated with autoinflammatory diseases in 1997.
Conclusions: A shared online registry for patients with autoinflammatory diseases is available and enrollment is ongoing. Currently, there are data available for analysis on clinical presentation, disease course, and response to treatment, and to perform large scale comparative studies between different conditions.
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http://dx.doi.org/10.1136/annrheumdis-2011-200549 | DOI Listing |
Int Immunopharmacol
December 2024
Department of Urology, The First Hospital of Jilin University, Changchun, China. Electronic address:
Background: The cryopyrin-associated periodic syndrome (CAPS) is a rare autosomal dominant hereditary inflammatory disease clinically characterized by three overlapping types and associated with interleukin (IL)-1β.We reported a rare case of CAPS in a patient with accompanying symptoms such as growth retardation and urticaria-like rash. These clinical manifestations were caused by mutations in the NALP3 gene.
View Article and Find Full Text PDFEur J Immunol
December 2024
Department of Rheumatology and Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Stomatologiia (Mosk)
December 2024
Peoples Friendship University of Russia, Moscow, Russia.
Primary chronic osteomyelitis (PCO) is a rare non-bacterial autoinflammatory severe disease that most often affects children aged 7 to 12 years and is much less common in adults. The most common areas of lesion are long tubular bones, however, any bones of the skeleton, including the lower jaw, can be affected. The clinical picture of this disease is complex and similar to many tumor and tumor-like bone lesions, which often leads to a significant delay in making a correct diagnosis.
View Article and Find Full Text PDFExpert Opin Emerg Drugs
December 2024
Department of Brain and Behavioral Sciences, University of Pavia, Italy.
Introduction: Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous monogenic autoinflammatory disorder classified as an 'interferonopathy.' Nine genes have been implicated in AGS, encoding proteins involved in nucleic acid clearance, repair, sensing, or histone pre-mRNA processing. Dysregulation in these pathways leads to excessive type I interferon production, the primary driver of the disease.
View Article and Find Full Text PDFYale J Biol Med
December 2024
Department of Microbiology and Immunology, College of Veterinary Medicine, Cornell University, Ithaca, NY, USA.
In relation to ancient infections, a substantial number of retroviral sequences with persistent immunogenic potential were integrated within the human genome (HERVs). Under physiological conditions, coding sequences from HERVs can participate in cell/tissue homeostasis and physiological functions in an epigenetically controlled manner. However, HERV expression is susceptible to contribute to various pathologies, including autoinflammatory and autoimmune disorders, when reprogrammed by exogenous stimuli such as drugs or microbial infections.
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