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Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study
  1. Eldad Ben-Chetrit1,
  2. Marco Gattorno2,
  3. Ahmet Gul3,
  4. Daniel L Kastner4,
  5. Helen J Lachmann5,
  6. Isabelle Touitou6,
  7. Nicolino Ruperto7
  8. On behalf of the Paediatric Rheumatology International Trials Organisation (PRINTO) and the AIDs Delphi study participants
    1. 1 Rheumatology Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    2. 2 UOSD Centro Malattie Autoinfiammatorie e Immunodeficienze, Istituto Giannina Gaslini, Genoa, Italy
    3. 3 Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
    4. 4 Inflammatory Disease Section, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA
    5. 5 Division of Medicine, Centre for Amyloidosis & Acute Phase Proteins, University College London Medical School, London, UK
    6. 6 CEREMAIA, CHU Montpellier, INSERM U1183, Université de Montpellier, Montpellier, France
    7. 7 Clinica Pediatrica e Reumatologia–PRINTO, Istituto Giannina Gaslini, Genoa, Italy
    1. Correspondence to Eldad Ben-Chetrit, Rheumatology Unit, Hadassah Hebrew University Medical Center, Jerusalem, Israel; eldad{at}


    Autoinflammatory diseases (AIDs) are a relatively new family of disorders, defined about 19 years ago. Some of them are hereditary and some are not. The names given to these diseases do not follow any systematic guidelines, and sometimes the same disorder carries several names. The aim of this study is to refine the definition of AIDs and to provide some conventions for their naming. We focused mainly on monogenetic AIDs. Delphi technique, which enables consensus among a group of experts through internet and mail communication and questionnaires, was employed. After achieving 100% consensus among six members of a steering committee, the questionnaire containing AID definitions and the agreed-upon conventions were sent to 26 physicians and researchers working in the field of AIDs in order to gain broader support for the committee’s proposals. The committee proposed the following definition for AIDs: “Autoinflammatory diseases are clinical disorders caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation (elevated acute phase reactants-APR) and the lack of a primary pathogenic role for the adaptive immune system (autoreactive T-cells or autoantibody production).” Several rules were defined for guiding the naming of these diseases among which are: abandoning eponyms and preferring the name of the gene over its encoded protein. The new definition for AIDs allows inclusion of clinical disorders mainly associated with defects in the innate immune system. The new conventions propose names with clinical meaning and in some cases even clues for treatment.

    • autoimmune diseases
    • fever syndromes
    • familial mediterranean fever
    • inflammation
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    • Handling editor Josef S Smolen

    • Contributors All authors contributed equally to the planning and conduct of the study. Their placement in the authors’ list is dictated by the alphabetic order of their family names. The first version of the present manuscript was written by EB-C, MG and NR and then revised critically by all the remaining coauthors (AG, DLK, HJL, IT).

    • Funding The development and coordination of the Delphi survey has been funded with the research budgets of Istituto Giannina Gaslini; no external entity such as pharmaceutical companies has been involved at any stage of the project.

    • Competing interests For EB-C, MG, AG, DLK, HJL, IT: Nothing to disclose for this manuscript. NR received honoraria for consultancy of speaker’s bureau from the following pharmaceutical companies since last 5 years: Abbott, AbbVie, Amgen, Biogenidec, Astellas, Alter, AstraZeneca, Baxalta Biosimilars, Boehringer, BMS, CD Pharma, Celgene, CrescendoBio, EMD Serono, Hoffman La Roche, Italfarmaco, Janssen, MedImmune, Medac, Novartis, Novo Nordisk, Pfizer, Rewind Arms, R Pharma, Sanofi Aventis, Servier, Sinergie, Takeda, Vertex, UCB Biosciences GmbH. The Gaslini Hospital, which is the public Hospital where NR works as full time public employee, has received contributions from the following industries: Abbott, BMS, ‘Francesco Angelini’, GlaxoSmithKline (GSK), Hoffman La Roche, Italfarmaco, Janssen, Novartis, Pfizer, Sanofi Aventis, Schwarz Biosciences, Sobi, Xoma, Wyeth. This money has been reinvested for the research activities of the hospital in a fully independent manner without any commitment with third parties.

    • Patient consent Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Data sharing statement There are no data to be shared besides the manuscript.

    • Collaborators List of additional participants to the Delphi study: Ivona Aksentijevich, Bethesda, USA; Jordi Anton, Barcelona, Spain; Juan I Arostegui, Barcelona, Spain; Karyl S Barron, Bethesda, USA; Luca Cantarini, Siena, Italy; Fatma Dedeoglu, Boston, Massachusetts , USA; Erkan Demirkaya, London, Ontario, Canada; Dirk Foell, Muenster, Germany; Joost Frenkel, Utrecht, Netherlands; Philip J Hashkes, Jerusalem, Israel; Veronique Hentgen, Paris, France; Michael Hofer, Lausanne, Switzerland; Tilmann Kallinich, Berlin, Germany; Isabelle Koné-Paut, Paris, France; Jasmin B Kuemmerle-Deschner, Tuebingen, Germany; Ronald Laxer, Toronto, Ontario, Canada; Avi Livneh, Ramat Gan, Israel; Alberto Martini, Genoa, Italy; Laura Obici, Pavia, Italy; Seza Ozen, Ankara, Turkey; Dorota Rowczenio, London, UK; Ricardo Russo, Buenos Aires, Argentina; Yael Shinar, Tel Hashomer, Israel; Natasa Toplak, Ljubljana, Slovenia; Yosef Uziel, Kfar Saba, Israel; Marielle van Gijn, Utrecht, The Netherlands.

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