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Author: search.filters.author.Brian M FeldmanSubject: search.filters.subject.genetic

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    Item type:Publication,
    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
    (2022)
    Kader Cetin Gedik
    ;
    Lovro Lamot
    ;
    Micol Romano
    ;
    Erkan Demirkaya
    ;
    David Piskin
    <jats:sec><jats:title>Objective</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>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.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>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.</jats:p></jats:sec>
    Scopus© Citations 30  1