Abstract:
Objective.Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophyand elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of inter-feron genes (STING)–associated vasculopathy with onset in infancy (SAVI), and Aicardi-Goutières syndrome (AGS) arerare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targetedtreatments, 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 health care professional formulated research questions for a systematic literaturereview. Then, based on literature, Delphi questionnaires, and consensus methodology,“points to consider”to guidepatient management were developed.Results.The Task Force devised consensus and evidence-based guidance of 4 overarching principles and17 points to consider regarding the diagnosis, treatment, and long-term monitoring of patients with the autoinflamma-tory interferonopathies, CANDLE/PRAAS, SAVI, and AGS.Conclusion.These points to consider represent state-of-the-art knowledge to guide diagnostic evaluation, treat-ment, and management of patients with CANDLE/PRAAS, SAVI, and AGS and aim to standardize and improve care,quality of life, and disease outcomes.
