Compound heterozygous variants in OTULIN are associated with fulminant atypical late‐onset ORAS

Abstract Autoinflammatory diseases are a heterogenous group of disorders defined by fever and systemic inflammation suggesting involvement of genes regulating innate immune responses. Patients with homozygous loss‐of‐function variants in the OTU‐deubiquitinase OTULIN suffer from neonatal‐onset OTULI...

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Principais autores:	Julia Zinngrebe, Barbara Moepps, Thomas Monecke, Peter Gierschik, Ferdinand Schlichtig, Thomas F E Barth, Gudrun Strauß, Elena Boldrin, Carsten Posovszky, Ansgar Schulz, Ortraud Beringer, Eva Rieser, Eva‐Maria Jacobsen, Myriam Ricarda Lorenz, Klaus Schwarz, Ulrich Pannicke, Henning Walczak, Dierk Niessing, Catharina Schuetz, Pamela Fischer‐Posovszky, Klaus‐Michael Debatin
格式:	Artigo
語言:	Inglês
出版:	Springer Nature 2022-02-01
叢編:	EMBO Molecular Medicine
主題:	autoinflammation linear ubiquitin LUBAC ORAS OTULIN
在線閱讀:	https://doi.org/10.15252/emmm.202114901
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