Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

The discovery of the genetic cause of an inflammatory disorder shows that, in winnowing down candidate variants obtained by DNA sequencing screens, geneticists have been (so to speak) throwing the baby out with the bath water.

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Bibliographische Detailangaben
Veröffentlicht in:	The New England journal of medicine 2020-12, Vol.383 (27), p.2628-2638
Hauptverfasser:	Beck, David B, Ferrada, Marcela A, Sikora, Keith A, Ombrello, Amanda K, Collins, Jason C, Pei, Wuhong, Balanda, Nicholas, Ross, Daron L, Ospina Cardona, Daniela, Wu, Zhijie, Patel, Bhavisha, Manthiram, Kalpana, Groarke, Emma M, Gutierrez-Rodrigues, Fernanda, Hoffmann, Patrycja, Rosenzweig, Sofia, Nakabo, Shuichiro, Dillon, Laura W, Hourigan, Christopher S, Tsai, Wanxia L, Gupta, Sarthak, Carmona-Rivera, Carmelo, Asmar, Anthony J, Xu, Lisha, Oda, Hirotsugu, Goodspeed, Wendy, Barron, Karyl S, Nehrebecky, Michele, Jones, Anne, Laird, Ryan S, Deuitch, Natalie, Rowczenio, Dorota, Rominger, Emily, Wells, Kristina V, Lee, Chyi-Chia R, Wang, Weixin, Trick, Megan, Mullikin, James, Wigerblad, Gustaf, Brooks, Stephen, Dell’Orso, Stefania, Deng, Zuoming, Chae, Jae J, Dulau-Florea, Alina, Malicdan, May C.V, Novacic, Danica, Colbert, Robert A, Kaplan, Mariana J, Gadina, Massimo, Savic, Sinisa, Lachmann, Helen J, Abu-Asab, Mones, Solomon, Benjamin D, Retterer, Kyle, Gahl, William A, Burgess, Shawn M, Aksentijevich, Ivona, Young, Neal S, Calvo, Katherine R, Werner, Achim, Kastner, Daniel L, Grayson, Peter C
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Aged Aged, 80 and over Anemia Arteritis Autoimmune Diseases - genetics Bone marrow CRISPR Cytokines Cytokines - blood Danio rerio Disease Enzymes Exome - genetics Fibroblasts Flow cytometry Gene expression General & Internal Medicine Genes Genetic Diseases, X-Linked - genetics Genomes Genotype Genotype & phenotype Genotypes Giant Cell Arteritis - genetics Hematopoietic stem cells Humans Immunoblotting Inflammation - genetics Inflammatory diseases Leukocytes (neutrophilic) Life Sciences & Biomedicine Lymphocytes Male Medicine, General & Internal Methionine Microscopy Middle Aged Multiple myeloma Multiple Myeloma - genetics Mutation Mutation, Missense Myelodysplastic syndrome Myelodysplastic Syndromes - genetics Myeloid cells Patients Phenotypes Polyarteritis Nodosa - genetics Polychondritis, Relapsing - genetics Research programs Science & Technology Sequence Analysis, DNA Stem cells Sweet Syndrome - genetics Syndrome Ubiquitin-Activating Enzymes - genetics Vacuoles Vasculitis
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Beschreibung
Zusammenfassung:	The discovery of the genetic cause of an inflammatory disorder shows that, in winnowing down candidate variants obtained by DNA sequencing screens, geneticists have been (so to speak) throwing the baby out with the bath water.
ISSN:	0028-4793 1533-4406
DOI:	10.1056/NEJMoa2026834