Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
David B BeckMarcela A FerradaKeith A SikoraAmanda K OmbrelloJason C CollinsWuhong PeiNicholas BalandaDaron L RossDaniela Ospina CardonaZhijie WuBhavisha PatelKalpana ManthiramEmma M GroarkeFernanda Gutierrez-RodriguesPatrycja HoffmannSofia RosenzweigShuichiro NakaboLaura W DillonChristopher S HouriganWanxia L TsaiSarthak GuptaCarmelo Carmona-RiveraAnthony J AsmarLisha XuHirotsugu OdaWendy GoodspeedKaryl S BarronMichele NehrebeckyAnne JonesRyan S LairdNatalie T DeuitchDorota RowczenioEmily RomingerKristina V WellsChyi-Chia R LeeWeixin WangMegan TrickJames MullikinGustaf WigerbladStephen BrooksStefania Dell'OrsoZuoming DengJae J ChaeAlina Dulau-FloreaMay C V MalicdanDanica NovacicRobert A ColbertMariana J KaplanMassimo GadinaSinisa SavicHelen J LachmannMones Abu-AsabBenjamin D SolomonKyle RettererWilliam A GahlJason W SinclairIvona AksentijevichNeal S YoungKatherine R CalvoAchim WernerDaniel L KastnerPeter C GraysonPublished in: The New England journal of medicine (2020)
Using a genotype-driven approach, we identified a disorder that connects seemingly unrelated adult-onset inflammatory syndromes. We named this disorder the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. (Funded by the NIH Intramural Research Programs and the EU Horizon 2020 Research and Innovation Program.).