Paediatrics Publications

Title

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

Authors

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 & DentistryFollow
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

Journal

Annals of the Rheumatic Diseases

URL with Digital Object Identifier

10.1136/annrheumdis-2021-221814

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.

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