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The Role of International Registries for Rare Autoinflammatory Diseases

  • Martina Finetti
  • Marco Gattorno
Chapter

Abstract

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.

Keywords

Eurofever Autoinflammation Registries Periodic fevers Interleukin-1 blockade 

Abbreviations

ADDI

Autoinflammatory Disease Damage Index

AIDAI

Autoinflammatory Disease Activity Index

CANDLE

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature

CAPS

Cryopyrin-associated periodic syndromes

CARD

Caspase activation and recruitment domain

CNO

Chronic non-bacterial osteomyelitis

CRF

Case report form

DADA2

Deficiency of adenosine deaminase 2

DIRA

Deficiency of the interleukin-1 receptor antagonist

DITRA

Deficiency of the interleukin-36 receptor antagonist

ESID

European Society of Immune-Deficiencies

EULAR

European League Against Rheumatism

FCAS2

Familial cold autoinflammatory syndrome 2

FMF

Familial Mediterranean fever

HRF

Hereditary recurrent fever

IL

Interleukin

ISSAID

International Society of Systemic Autoinflammatory Diseases

MKD

Mevalonate kinase deficiency

NLRP

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

NSAIDs

Nonsteroidal anti-inflammatory drugs

PAPA

Pyogenic arthritis, pyoderma gangrenosum, acne

PFAPA

Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis

PI

Principal investigator

PReS

Pediatric Rheumatology European Society

ROC

Receiver operating characteristic

SAVI

STING-associated vasculopathy with onset in infancy

SOBI

Swedish Orphan Biovitrum

TRAPS

Tumor necrosis factor receptor-associated periodic syndrome

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Martina Finetti
    • 1
  • Marco Gattorno
    • 1
  1. 1.G. Gaslini InstituteGenoaItaly

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