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

Kader Cetin Gedik¹, Lovro Lamot², Micol Romano³, Erkan Demirkaya³, David Piskin⁴, Sofia Torreggiani⁵, Laura A Adang⁶, Thais Armangue⁷, Kathe Barchus⁸, Devon R Cordova⁹, Yanick J Crow¹⁰, Russell C Dale¹¹, Karen L Durrant¹², Despina Eleftheriou¹³, Elisa M Fazzi¹⁴, Marco Gattorno¹⁵, Francesco Gavazzi¹⁶, Eric P Hanson¹⁷, Min Ae Lee-Kirsch¹⁸, Gina A Montealegre Sanchez¹, Bénédicte Neven¹⁹, Simona Orcesi²⁰, Seza Ozen²¹, M Cecilia Poli²², Elliot Schumacher⁸, Davide Tonduti²³, Katsiaryna Uss¹, Daniel Aletaha²⁴, Brian M Feldman²⁵, Adeline Vanderver²⁶, Paul A Brogan¹³, Raphaela Goldbach-Mansky¹

Affiliations

¹ National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
² University of Zagreb School of Medicine, Zagreb, Croatia.
³ University of Western Ontario, London, Ontario, Canada.
⁴ University of Western Ontario, London Health Sciences Center, and Lawson Health Research Institute, London, Ontario, Canada.
⁵ National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, and UOC Pediatria a Media Intensità di Cura, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁶ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
⁷ Sant Joan de Deu Children's Hospital and IDIBAPS-Hospital Clinic; University of Barcelona, Barcelona, Spain.
⁸ Autoinflammatory Alliance, San Francisco, California.
⁹ Aicardi-Goutieres Syndrome Americas Association, Manhattan Beach, California.
¹⁰ University of Edinburgh, Edinburgh, UK, and Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, University of Paris, Paris, France.
¹¹ University of Sydney, Sydney, New South Wales, Australia.
¹² Autoinflammatory Alliance and Kaiser San Francisco Hospital, San Francisco, California.
¹³ University College London, London, UK.
¹⁴ ASST Civil Hospital and University of Brescia, Brescia, Italy.
¹⁵ IRCCS Istituto Giannina Gaslini, Genoa, Italy.
¹⁶ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, and University of Brescia, Brescia, Italy.
¹⁷ Riley Hospital for Children and Indiana University School of Medicine, Indianapolis.
¹⁸ Technische Universität Dresden, Dresden, Germany.
¹⁹ Necker Children's Hospital, AP-HP, Institut Imagine Institut des Maladies Genetiques, University of Paris, Paris, France.
²⁰ IRCCS Mondino Foundation and University of Pavia, Pavia, Italy.
²¹ Hacettepe University, Ankara, Turkey.
²² Universidad del Desarrollo, Santiago, Chile.
²³ V. Buzzi Children's Hospital, Milan, Italy.
²⁴ Medical University of Vienna, Vienna, Austria.
²⁵ Hospital for Sick Children and University of Toronto Institute of Health Policy Management and Evaluation, Toronto, Ontario, Canada.
²⁶ Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia.

PMID: 35315249
DOI: 10.1002/art.42087

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

Kader Cetin Gedik et al. Arthritis Rheumatol. 2022 May.

. 2022 May;74(5):735-751.

doi: 10.1002/art.42087. Epub 2022 Mar 21.

Authors

Affiliations

¹ National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland.
² University of Zagreb School of Medicine, Zagreb, Croatia.
³ University of Western Ontario, London, Ontario, Canada.
⁴ University of Western Ontario, London Health Sciences Center, and Lawson Health Research Institute, London, Ontario, Canada.
⁵ National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland, and UOC Pediatria a Media Intensità di Cura, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
⁶ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
⁷ Sant Joan de Deu Children's Hospital and IDIBAPS-Hospital Clinic; University of Barcelona, Barcelona, Spain.
⁸ Autoinflammatory Alliance, San Francisco, California.
⁹ Aicardi-Goutieres Syndrome Americas Association, Manhattan Beach, California.
¹⁰ University of Edinburgh, Edinburgh, UK, and Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, University of Paris, Paris, France.
¹¹ University of Sydney, Sydney, New South Wales, Australia.
¹² Autoinflammatory Alliance and Kaiser San Francisco Hospital, San Francisco, California.
¹³ University College London, London, UK.
¹⁴ ASST Civil Hospital and University of Brescia, Brescia, Italy.
¹⁵ IRCCS Istituto Giannina Gaslini, Genoa, Italy.
¹⁶ Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, and University of Brescia, Brescia, Italy.
¹⁷ Riley Hospital for Children and Indiana University School of Medicine, Indianapolis.
¹⁸ Technische Universität Dresden, Dresden, Germany.
¹⁹ Necker Children's Hospital, AP-HP, Institut Imagine Institut des Maladies Genetiques, University of Paris, Paris, France.
²⁰ IRCCS Mondino Foundation and University of Pavia, Pavia, Italy.
²¹ Hacettepe University, Ankara, Turkey.
²² Universidad del Desarrollo, Santiago, Chile.
²³ V. Buzzi Children's Hospital, Milan, Italy.
²⁴ Medical University of Vienna, Vienna, Austria.
²⁵ Hospital for Sick Children and University of Toronto Institute of Health Policy Management and Evaluation, Toronto, Ontario, Canada.
²⁶ Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia.

PMID: 35315249
DOI: 10.1002/art.42087

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.

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References

REFERENCES

1. Sanchez GA, Reinhardt A, Ramsey S, Wittkowski H, Hashkes PJ, Berkun Y, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest 2018;128:3041-52.
1. Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q, et al. Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest 2015;125:4196-211.
1. Crow YJ, Manel N. Aicardi-Goutières syndrome and the type I interferonopathies [review]. Nat Rev Immunol 2015;15:429-40.
1. Kim H, Sanchez GA, Goldbach-Mansky R. Insights from Mendelian interferonopathies: comparison of CANDLE, SAVI with AGS, monogenic lupus. J Mol Med 2016;94:1111-27.
1. Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T, et al. Proteasome assembly defect due to a proteasome subunit β type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 2011;108:14914-9.

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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

Affiliations

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

Authors

Affiliations

Abstract

References

REFERENCES

Publication types

MeSH terms

Supplementary concepts

LinkOut - more resources

Full Text Sources

Medical

Research Materials