D
Daniela Ospina Cardona
Researcher at National Institutes of Health
Publications - 8
Citations - 710
Daniela Ospina Cardona is an academic researcher from National Institutes of Health. The author has contributed to research in topics: Medicine & Macrocytic anemia. The author has an hindex of 4, co-authored 5 publications receiving 163 citations.
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Journal ArticleDOI
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
David B. Beck,Marcela A. Ferrada,Keith A. Sikora,Amanda K. Ombrello,Jason C. Collins,Wuhong Pei,Nicholas Balanda,Daron L. Ross,Daniela Ospina Cardona,Zhijie Wu,Bhavisha A Patel,Kalpana Manthiram,Emma M. Groarke,Fernanda Gutierrez-Rodrigues,Patrycja Hoffmann,Sofia Rosenzweig,Shuichiro Nakabo,Laura W. Dillon,Christopher S. Hourigan,Wanxia L. Tsai,Sarthak Gupta,Carmelo Carmona-Rivera,Anthony J. Asmar,Lisha Xu,Hirotsugu Oda,Wendy Goodspeed,Karyl S. Barron,Michele Nehrebecky,Anne Jones,Ryan S. Laird,Natalie Deuitch,Dorota Rowczenio,Emily Rominger,Kristina V. Wells,Chyi-Chia Richard Lee,Weixin Wang,Megan Trick,James C. Mullikin,Gustaf Wigerblad,Stephen R. Brooks,Stefania Dell'Orso,Zuoming Deng,Jae Jin Chae,Alina Dulau-Florea,May Christine V. Malicdan,Danica Novacic,Robert A. Colbert,Mariana J. Kaplan,Massimo Gadina,Sinisa Savic,Helen J. Lachmann,Mones Abu-Asab,Benjamin D. Solomon,Kyle Retterer,William A. Gahl,Shawn M. Burgess,Ivona Aksentijevich,Neal S. Young,Katherine R. Calvo,Achim Werner,Daniel L. Kastner,Peter C. Grayson +61 more
TL;DR: Using a genotype-driven approach, this disorder is identified that connects seemingly unrelated adult-onset inflammatory syndromes and is named the VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Journal ArticleDOI
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS
Marcela A. Ferrada,Keith A. Sikora,Yiming Luo,Kristina V. Wells,Bhavisha A Patel,Emma M. Groarke,Daniela Ospina Cardona,Emily Rominger,Patrycja Hoffmann,Mimi T. Le,Zuoming Deng,Kaitlin A. Quinn,Emily Rose,Wanxia L. Tsai,Gustaf Wigerblad,Wendy Goodspeed,Anne Jones,Lorena Wilson,Oskar Schnappauf,Ryan S. Laird,Jeff Kim,Clint T. Allen,Arlene Sirajuddin,Marcus Y Chen,Massimo Gadina,Katherine R. Calvo,Mariana J. Kaplan,Robert A. Colbert,Ivona Aksentijevich,Neal S. Young,Sinisa Savic,Daniel L. Kastner,Amanda K. Ombrello,David B. Beck,Peter C. Grayson +34 more
TL;DR: In this paper, the prevalence of UBA1 mutations in patients with relapsing polychondritis (RP) was defined and an algorithm was developed to identify patients with genetically confirmed VEXAS among those with RP.
Journal ArticleDOI
Novel somatic mutations in UBA1 as a cause of VEXAS syndrome
James A. Poulter,Jason C. Collins,Catherine Cargo,Ruth M. de Tute,Paul Evans,Daniela Ospina Cardona,David T. Bowen,Joanna R Cunnington,Elaine Baguley,Mark T. Quinn,Michael R. Green,Dennis McGonagle,David B. Beck,Achim Werner,Sinisa Savic +14 more
TL;DR: In this paper, the prevalence of mutations at methionine 41 (Met41) in UBA1, encoding the major E1 enzyme responsible for initiating ubiquitylation, were identified as the cause of a novel autoinflammatory disease, named VEXAS.
Journal ArticleDOI
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1
Ifeyinwa Emmanuela Obiorah,Bhavisha A Patel,Emma M. Groarke,Weixin Wang,Megan Trick,Amanda K. Ombrello,Marcela A. Ferrada,Zhijie Wu,Fernanda Gutierrez-Rodrigues,Jennifer Lotter,Lorena Wilson,Patrycja Hoffmann,Daniela Ospina Cardona,Nisha Patel,Alina Dulau-Florea,Daniel L. Kastner,Peter C. Grayson,David B. Beck,Neal S. Young,Katherine R. Calvo +19 more
TL;DR: In this paper, the authors reported clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS, all of whom were male and had a history of severe autoinflammatory and rheumatologic manifestations.
Journal ArticleDOI
Clinical Heterogeneity of the VEXAS Syndrome: A Case Series.
Matthew J. Koster,Taxiarchis Kourelis,Kaaren K. Reichard,Tanaz A. Kermani,David B. Beck,Daniela Ospina Cardona,Matthew J. Samec,Abhishek A. Mangaonkar,Kebede H. Begna,C. Christopher Hook,Jennifer L. Oliveira,Samih H. Nasr,Benedict K. Tiong,Mrinal M. Patnaik,Michelle M. Burke,Clement J. Michet,Kenneth J. Warrington +16 more
TL;DR: In this paper, the authors describe the clinical features and outcomes of patients with the newly defined vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome.