The Role of International Registries for Rare Autoinflammatory Diseases



The main aims of international registries for rare diseases are to evaluate genetic and epidemiological features, clinical presentations, treatment, outcome and prognostic factors. In 2008, the Pediatric Rheumatology European Society (PReS) promoted the Eurofever Project, specifically aimed at the creation of a permanent network for the study of autoinflammatory diseases in childhood. The Eurofever Project involved more than 400 centers in 60 countries worldwide; enrollment started in November 2009. In its first version, Eurofever was established as a cross-sectional registry, collecting information of the patients from disease onset to disease diagnosis. In 2015, it was transformed to a longitudinal registry, collecting information on a yearly basis on the clinical evolution and the efficacy and safety of different treatments used in these rare conditions. The first aim of the Eurofever registry was to improve the knowledge about the presentation, disease course, complications, genotype-phenotype correlations and response to treatment of these rare disorders. Further purposes of the Eurofever registry were to generate evidence-based diagnostic and classification criteria and to elaborate on disease activity parameters. During the last 8 years, the international effort to build a common registry on autoinflammatory diseases led to considerable accumulation of new information enabling to fulfill most of the initial aims.


Eurofever Autoinflammation Registries Periodic fevers Interleukin-1 blockade 



Autoinflammatory Disease Damage Index


Autoinflammatory Disease Activity Index


Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature


Cryopyrin-associated periodic syndromes


Caspase activation and recruitment domain


Chronic non-bacterial osteomyelitis


Case report form


Deficiency of adenosine deaminase 2


Deficiency of the interleukin-1 receptor antagonist


Deficiency of the interleukin-36 receptor antagonist


European Society of Immune-Deficiencies


European League Against Rheumatism


Familial cold autoinflammatory syndrome 2


Familial Mediterranean fever


Hereditary recurrent fever




International Society of Systemic Autoinflammatory Diseases


Mevalonate kinase deficiency


Nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain


Nonsteroidal anti-inflammatory drugs


Pyogenic arthritis, pyoderma gangrenosum, acne


Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis


Principal investigator


Pediatric Rheumatology European Society


Receiver operating characteristic


STING-associated vasculopathy with onset in infancy


Swedish Orphan Biovitrum


Tumor necrosis factor receptor-associated periodic syndrome


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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.G. Gaslini InstituteGenoaItaly

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