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The 2021 Eurpean Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type i interferonopathies: CANDLE/PRAAS, SAVI and AGS
Annals of the Rheumatic Diseases
  • Kader Cetin Gedik, National Institute of Allergy and Infectious Diseases (NIAID)
  • Lovro Lamot, University of Zagreb School of Medicine
  • Micol Romano, Schulich School of Medicine & Dentistry
  • Erkan Demirkaya, Schulich School of Medicine & Dentistry
  • David Piskin, Schulich School of Medicine & Dentistry
  • Sofia Torreggiani, National Institute of Allergy and Infectious Diseases (NIAID)
  • Laura A. Adang, The Children's Hospital of Philadelphia
  • Thais Armangue, Universitat de Barcelona
  • Kathe Barchus, Autoinflammatory Alliance
  • Devon R. Cordova, Aicardi-Goutieres Syndrome Americas Association
  • Yanick J. Crow, The University of Edinburgh
  • Russell C. Dale, Faculty of Medicine and Health
  • Karen L. Durrant, Autoinflammatory Alliance
  • Despina Eleftheriou, UCL Great Ormond Street Institute of Child Health
  • Elisa M. Fazzi, Università degli Studi di Brescia
  • Marco Gattorno, Istituto Giannina Gaslini
  • Francesco Gavazzi, The Children's Hospital of Philadelphia
  • Eric P. Hanson, Indiana University-Purdue University Indianapolis
  • Min Ae Lee-Kirsch, Medizinische Fakultät Carl Gustav Carus
  • Gina A. Montealegre Sanchez, National Institute of Allergy and Infectious Diseases (NIAID)
  • Bénédicte Neven, Université Paris Cité
  • Simona Orcesi, IRCCS Fondazione Mondino
  • Seza Ozen, Hacettepe Üniversitesi
  • M. Cecilia Poli, Universidad del Desarrollo
  • Elliot Schumacher, Autoinflammatory Alliance
  • Davide Tonduti, Ospedale dei Bambini Vittore Buzzi
  • Katsiaryna Uss, National Institute of Allergy and Infectious Diseases (NIAID)
  • Daniel Aletaha, Medizinische Universität Wien
  • Brian M. Feldman, Hospital for Sick Children University of Toronto
Document Type
Article
Publication Date
1-1-2022
URL with Digital Object Identifier
10.1136/annrheumdis-2021-221814
Disciplines
Abstract

Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of 'points to consider' to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases. Methods: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature review. Then, based on literature, Delphi questionnaires and consensus methodology, 'points to consider' to guide patient management were developed. Results: The Task Force devised consensus and evidence-based guidance of 4 overarching principles and 17 points to consider regarding the diagnosis, treatment and long-term monitoring of patients with the autoinflammatory interferonopathies, CANDLE/PRAAS, SAVI and AGS. Conclusion: These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treatment and management of patients with CANDLE/PRAAS, SAVI and AGS and aim to standardise and improve care, quality of life and disease outcomes.

Citation Information
Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, et al.. "The 2021 Eurpean Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type i interferonopathies: CANDLE/PRAAS, SAVI and AGS" Annals of the Rheumatic Diseases (2022)
Available at: http://works.bepress.com/erkan-demirkaya/43/