The 2021 European 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.

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.
Competing Interests: Competing interests: EMF received NIH Grant “Clinical Outcomes in Aicardi Goutières Syndrome” (Grant number 5U01NS106845-02) and participated in an advisory board of Biogen. EPH: Spouse employed by Eli Lilly and received stock options in 2019 and 2020. SO1: NIH Grant “Clinical Outcomes in Aicardi Goutières Syndrome” (Grant number 5U01NS106845-02) and participated in advisory board of Biogen. CP received consulting and lecture fees from Novartis. BMF is associate editor of Arthritis and Rheumatology and member of the ACR guidance document committee. AV received grant support from Eli Lilly. PAB received grants from Roche and consulting and lecture fees and travel support from Roche, SOBI and Novartis. RG-M received study support under government CRADAs from Eli Lilly, IFM and SOBI. The consensus meetings were sponsored as EULAR/ACR projects.
(© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)