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The Interdisciplinary Diagnosis of Rare Diseases-Results of the Translate-NAMSE Project.

Franziska Rillig, Annette Grüters, Tobias Bäumer, Georg F Hoffmann, Daniela Choukair, Reinhard Berner, Min Ae Lee-Kirsch, Martin Mücke, Corinna Grasemann, Annekatrin Ripke, Lena Zeltner, Gabriele Müller, Monika Glauch, Holm Graessner, Fabian Hauck, Christoph Klein, Markus M Nöthen, Olaf Riess, Stefan Mundlos, Thomas Meitinger, Tobias Kurt, Kerstin L Wainwright, Jochen Schmitt, Christoph Schramm, Heiko Krude,

<h4>Background</h4>Patients with rare diseases often undergo a diagnostic odyssey that can last many years until the diagnosis is definitively established. To improve the diagnosis and treatment of these patients, the German National Task Force for Patients With Rare Diseases (Nationales Aktionsbündnis für Menschen mit Seltenen Erkrankungen, NAMSE) has recommended the ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2022, (Forthcoming):arztebl.m2022.0219]

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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.

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,

<h4>Objective</h4>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 ... Read more >>

Arthritis Rheumatol (Arthritis & rheumatology (Hoboken, N.J.))
[2022, 74(5):735-751]

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