The 2021 Eurpean 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
| Autor: | Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura A Adang, Thais Armangue, Kathe Barchus, Devon R Cordova, Yanick J Crow, Russell C Dale, Karen L Durrant, Despina Eleftheriou, Elisa M Fazzi, Marco Gattorno, Francesco Gavazzi, Eric P Hanson, Min Ae Lee-Kirsch, Gina A Montealegre Sanchez, Bénédicte Neven, Simona Orcesi, Seza Ozen, M Cecilia Poli, Elliot Schumacher, Davide Tonduti, Katsiaryna Uss, Daniel Aletaha, Brian M Feldman, Adeline Vanderver, Paul A Brogan, Raphaela Goldbach-Mansky |
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| Rok vydání: | 2022 |
| Předmět: |
Immunology
immune system diseases Nervous System Malformations Skin Diseases Pediatrics General Biochemistry Genetics and Molecular Biology Settore MED/39 - Neuropsichiatria Infantile Article polymorphism Fingers Type I Interferonopathies CANDLE/PRAAS SAVI AGS Autoimmune Diseases of the Nervous System Erythema Nodosum Rheumatology genetic inflammation Quality of Life Immunology and Allergy Humans |
| Zdroj: | Paediatrics Publications ARTHRITIS & RHEUMATOLOGY r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu instname Ann Rheum Dis ANNALS OF THE RHEUMATIC DISEASES |
| ISSN: | 2326-5191 0003-4967 |
| Popis: | ObjectiveAutoinflammatory 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.MethodsMembers 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.ResultsThe 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.ConclusionThese 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. |
| Databáze: | OpenAIRE |
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