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The Role of International Registries for Rare Autoinflammatory Diseases

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Textbook of Autoinflammation

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.

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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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Author information

Authors and Affiliations

  1. G. Gaslini Institute, Genoa, Italy

    Martina Finetti & Marco Gattorno

Authors
  1. Martina Finetti
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  2. Marco Gattorno
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Editor information

Editors and Affiliations

  1. Pediatric Rheumatology Unit, Shaare Zedek Medical Center and Hebrew University, Jerusalem, Israel

    Philip J. Hashkes

  2. Department Paediatrics, Division of Rheumatology, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada

    Ronald M. Laxer

  3. Department of Internal Medicine, Radboudumc Expertisecenter for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands

    Anna Simon

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Finetti, M., Gattorno, M. (2019). The Role of International Registries for Rare Autoinflammatory Diseases. In: Hashkes, P., Laxer, R., Simon, A. (eds) Textbook of Autoinflammation. Springer, Cham. https://doi.org/10.1007/978-3-319-98605-0_14

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  • DOI: https://doi.org/10.1007/978-3-319-98605-0_14

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