Naslov
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

Autori
Cetin Gedik, Kader ; Lamot, Lovro ; Romano, Micol ; Demirkaya, Erkan ; Piskin, David ; Torreggiani, Sofia ; Adang, Laura A ; Armangue, Thais ; Barchus, Kathe ; Cordova, Devon R ; Crow, Yanick J ; Dale, Russell C ; Durrant, Karen L ; Eleftheriou, Despina ; Fazzi, Elisa M ; Gattorno, Marco ; Gavazzi, Francesco ; Hanson, Eric P ; Lee- Kirsch, Min Ae ; Montealegre Sanchez, Gina A ; Neven, Bénédicte ; Orcesi, Simona ; Ozen, Seza ; Poli, M Cecilia ; Schumacher, Elliot ; Tonduti, Davide ; Uss, Katsiaryna ; Aletaha, Daniel ; Feldman, Brian M ; Vanderver, Adeline ; Brogan, Paul A ; Goldbach-Mansky, Raphaela

Izvornik
Annals of the Rheumatic Diseases (0003-4967) 81 (2022), 5; 601-613

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, stručni

Ključne riječi
genetic ; immune system diseases ; inflammation ; polymorphism.

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA