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

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 OTULIN‐related...

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Detalles Bibliográficos
Autores principales: Zinngrebe, Julia, Moepps, Barbara, Monecke, Thomas, Gierschik, Peter, Schlichtig, Ferdinand, Barth, Thomas F E, Strauß, Gudrun, Boldrin, Elena, Posovszky, Carsten, Schulz, Ansgar, Beringer, Ortraud, Rieser, Eva, Jacobsen, Eva‐Maria, Lorenz, Myriam Ricarda, Schwarz, Klaus, Pannicke, Ulrich, Walczak, Henning, Niessing, Dierk, Schuetz, Catharina, Fischer‐Posovszky, Pamela, Debatin, Klaus‐Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8899767/
https://www.ncbi.nlm.nih.gov/pubmed/35170849
http://dx.doi.org/10.15252/emmm.202114901

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8899767/
https://www.ncbi.nlm.nih.gov/pubmed/35170849
http://dx.doi.org/10.15252/emmm.202114901

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