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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

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dc.contributor.authorGedik, Kader
dc.contributor.authorLamot, Lovro
dc.contributor.authorRomano, Micol
dc.contributor.authorDemirkaya, Erkan
dc.contributor.authorPiskin, David
dc.contributor.authorTorreggiani, Sofia
dc.contributor.authorAdang, Laura
dc.contributor.authorArmangue, Thais
dc.contributor.authorBarchus, Kathe
dc.contributor.authorCordova, Devon
dc.contributor.authorCrow, Yanick
dc.contributor.authorDale, Russell
dc.contributor.authorDurrant, Karen
dc.contributor.authorEleftheriou, Despina
dc.contributor.authorFazz, Elisa
dc.contributor.authorGattorno, Marco
dc.contributor.authorGavazzi, Francesco
dc.contributor.authorHanson, Eric
dc.contributor.authorLee-Kirsch, Min Ae
dc.contributor.authorMontealegre, Gina
dc.contributor.authorNeven, Bénédicte
dc.contributor.authorOrcesi, Simona
dc.contributor.authorOzen, Seza
dc.contributor.authorPoli Harlowe, María Cecilia
dc.contributor.authorSchumacher, Elliot
dc.contributor.authorTonduti, Davide
dc.contributor.authorUss, Katsiaryna
dc.contributor.authorAletaha, Daniel
dc.contributor.authorFeldman, Brian
dc.contributor.authorVanderver, Adeline
dc.contributor.authorBrogan, Paul
dc.contributor.authorGoldbach, Raphaela
dc.date.accessioned2024-06-12T14:57:00Z
dc.date.available2024-06-12T14:57:00Z
dc.date.issued2022
dc.description.abstractObjective: 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.
dc.description.versionPublicada
dc.identifier.citationCetin Gedik K, Lamot L, Romano M, Demirkaya E, Piskin D, Torreggiani S, Adang LA, Armangue T, Barchus K, Cordova DR, Crow YJ, Dale RC, Durrant KL, Eleftheriou D, Fazzi EM, Gattorno M, Gavazzi F, Hanson EP, Lee-Kirsch MA, Montealegre Sanchez GA, Neven B, Orcesi S, Ozen S, Poli MC, Schumacher E, Tonduti D, Uss K, Aletaha D, Feldman BM, Vanderver A, Brogan PA, Goldbach-Mansky R. 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. Ann Rheum Dis. 2022 May;81(5):601-613. doi: 10.1136/annrheumdis-2021-221814
dc.identifier.doihttps://doi.org/10.1136/annrheumdis-2021-221814
dc.identifier.urihttps://hdl.handle.net/11447/9074
dc.language.isoen
dc.subjectGenetic
dc.subjectImmune system diseases
dc.subjectInflammation
dc.subjectPolymorphism
dc.titleThe 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
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceAnnals of the rheumatic diseases
dspace.entity.typePublication
relation.isAuthorOfPublicationbf711dbf-cd6f-4a66-97fb-64c15f664de3
relation.isAuthorOfPublication.latestForDiscoverybf711dbf-cd6f-4a66-97fb-64c15f664de3

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