The 2021 EULAR and ACR points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE/PRAAS, SAVI and AGS

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Gedik K. C., Lamot L., Romano M., Demirkaya E., Piskin D., Torreggiani S., ...Daha Fazla

ANNALS OF THE RHEUMATIC DISEASES, cilt.81, sa.5, ss.601-613, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 81 Sayı: 5
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1136/annrheumdis-2021-221814
  • Dergi Adı: ANNALS OF THE RHEUMATIC DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, CINAHL, EMBASE, MEDLINE, Veterinary Science Database
  • Sayfa Sayıları: ss.601-613
  • Anahtar Kelimeler: inflammation, polymorphism, genetic, immune system diseases, AICARDI-GOUTIERES-SYNDROME, PROTEASOME SUBUNIT, JOINT CONTRACTURES, MICROCYTIC ANEMIA, MUTATIONS, DISEASE, SAMHD1, ONSET, TREX1, LIPODYSTROPHY
  • Hacettepe Üniversitesi Adresli: Evet

Özet

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-Goutieres 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.