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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • Kader Cetin Gedik - , National Institutes of Health (NIH) (Autor:in)
  • Lovro Lamot - , University of Zagreb (Autor:in)
  • Micol Romano - , Western University (Autor:in)
  • Erkan Demirkaya - , Western University (Autor:in)
  • David Piskin - , Western University (Autor:in)
  • Sofia Torreggiani - , IRCCS Fondazione Ca'Granda – Ospedale Maggiore Policlinico - Milano (Autor:in)
  • Laura A. Adang - , University of Pennsylvania (Autor:in)
  • Thais Armangue - , Universitat de Barcelona (Autor:in)
  • Kathe Barchus - , Autoinflammatory Alliance (Autor:in)
  • Devon R. Cordova - , Aicardi-Goutieres Syndrome Americas Association (Autor:in)
  • Yanick J. Crow - , University of Edinburgh (Autor:in)
  • Russell C. Dale - , University of Sydney (Autor:in)
  • Karen L. Durrant - , Autoinflammatory Alliance and Kaiser San Francisco Hospital (Autor:in)
  • Despina Eleftheriou - , University College London (Autor:in)
  • Elisa M. Fazzi - , University of Brescia (Autor:in)
  • Marco Gattorno - , IRCCS Istituto Giannina Gaslini - Genova (Autor:in)
  • Francesco Gavazzi - , University of Brescia (Autor:in)
  • Eric P. Hanson - , Indiana University-Purdue University Indianapolis (Autor:in)
  • Min Ae Lee-Kirsch - , Klinik und Poliklinik für Kinder- und Jugendmedizin (Autor:in)
  • Gina A. Montealegre Sanchez - , National Institutes of Health (NIH) (Autor:in)
  • Bénédicte Neven - , Université Paris Cité (Autor:in)
  • Simona Orcesi - , Università degli Studi di Pavia (Autor:in)
  • Seza Ozen - , Hacettepe University (Autor:in)
  • M. Cecilia Poli - , Universidad del Desarrollo (Autor:in)
  • Elliot Schumacher - , Autoinflammatory Alliance (Autor:in)
  • Davide Tonduti - , Ospedale dei Bambini Vittore Buzzi (Autor:in)
  • Katsiaryna Uss - , National Institutes of Health (NIH) (Autor:in)
  • Daniel Aletaha - , Medizinische Universität Wien (Autor:in)
  • Brian M. Feldman - , University of Toronto (Autor:in)
  • Adeline Vanderver - , University of Pennsylvania (Autor:in)
  • Paul A. Brogan - , University College London (Autor:in)
  • Raphaela Goldbach-Mansky - , National Institutes of Health (NIH) (Autor:in)

Abstract

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 health care 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 standardize and improve care, quality of life, and disease outcomes.

Details

OriginalspracheEnglisch
Seiten (von - bis)735-751
Seitenumfang17
FachzeitschriftArthritis and Rheumatology
Jahrgang74
Ausgabenummer5
PublikationsstatusVeröffentlicht - Mai 2022
Peer-Review-StatusJa

Externe IDs

PubMed 35315249

Schlagworte