E
Elizabeth M. McDermott
Researcher at University of Nottingham
Publications - 29
Citations - 3445
Elizabeth M. McDermott is an academic researcher from University of Nottingham. The author has contributed to research in topics: TNF receptor associated periodic syndrome & Medicine. The author has an hindex of 18, co-authored 24 publications receiving 3104 citations. Previous affiliations of Elizabeth M. McDermott include Boston Children's Hospital & Queen's University.
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Journal ArticleDOI
Germline mutations in the extracellular domains of the 55 kda tnf receptor, tnfr1, define a family of dominantly inherited autoinflammatory syndromes
Michael F. McDermott,Ivona Aksentijevich,Jérôme Galon,Elizabeth M. McDermott,B. William Ogunkolade,Michael Centola,Elizabeth Mansfield,Massimo Gadina,Leena Karenko,Tom Pettersson,John McCarthy,David M. Frucht,Martin Aringer,Yelizaveta Torosyan,Anna-Maija Teppo,Meredith Wilson,H.Mehmet Karaarslan,Ying Wan,Ian Todd,Geryl Wood,Ryan Schlimgen,Thisum R. Kumarajeewa,Sheldon M. Cooper,John P. Vella,Christopher I. Amos,John C. Mulley,Kathleen A. Quane,Michael G. Molloy,Annamari Ranki,Richard J. Powell,Graham A. Hitman,John J. O'Shea,Daniel L. Kastner +32 more
TL;DR: It is proposed that the autoinflammatory phenotype results from impaired downregulation of membrane TNFR1 and diminished shedding of potentially antagonistic soluble receptor inTNFR1-associated periodic syndromes.
Journal ArticleDOI
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
Keith M. Hull,Elizabeth Drewe,Ivona Aksentijevich,Harjot K Singh,Kondi Wong,Elizabeth M. McDermott,Jane Dean,Richard J. Powell,Daniel L. Kastner +8 more
TL;DR: Preliminary data suggest that etanercept may be effective in decreasing the severity, duration, and frequency of symptoms in TRAPS patients, and probably as yet undiscovered substitutions, represent very low penetrance mutations that may play a much larger role in more broadly defined inflammatory diseases such as rheumatoid arthritis.
Journal ArticleDOI
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects
Charlotte Schwab,Annemarie Gabrysch,Peter Olbrich,Virginia Patiño,Klaus Warnatz,Daniel Wolff,Akihiro Hoshino,Masao Kobayashi,Kohsuke Imai,Masatoshi Takagi,Ingunn Dybedal,Jamanda A. Haddock,David M. Sansom,José Manuel Lucena,Maximilian Seidl,Annette Schmitt-Graeff,Veronika Reiser,Florian Emmerich,Natalie Frede,Alla Bulashevska,Ulrich Salzer,Desirée Schubert,Seiichi Hayakawa,Satoshi Okada,Maria Kanariou,Zeynep Yesim Kucuk,Hugo Chapdelaine,Lenka Petruzelkova,Zdenek Sumnik,Anna Sediva,Mary Slatter,Peter D. Arkwright,Andrew J. Cant,Hanns-Martin Lorenz,Thomas Giese,Vassilios Lougaris,Alessandro Plebani,Christina Price,Kathleen E. Sullivan,Michel Moutschen,Jiri Litzman,Tomáš Freiberger,Frank L. van de Veerdonk,Mike Recher,Michael H. Albert,Fabian Hauck,Suranjith L. Seneviratne,Jana Pachlopnik Schmid,Antonios G.A. Kolios,Gary Unglik,Christian Klemann,Christian Klemann,Carsten Speckmann,Stephan Ehl,Alan M. Leichtner,Richard S. Blumberg,Andre Franke,Scott B. Snapper,Sebastian Zeissig,Sebastian Zeissig,Sebastian Zeissig,Charlotte Cunningham-Rundles,Lisa Giulino-Roth,Olivier Elemento,Gregor Dückers,Tim Niehues,Eva Fronkova,Veronika Kanderova,Craig D. Platt,Janet Chou,Talal A. Chatila,Raif S. Geha,Elizabeth M. McDermott,Su Bunn,Monika Kurzai,Ansgar Schulz,Laia Alsina,Ferran Casals,Angela Deyà-Martínez,Sophie Hambleton,Hirokazu Kanegane,Kjetil Taskén,Olaf Neth,Bodo Grimbacher,Bodo Grimbacher +84 more
TL;DR: The penetrance, clinical features, laboratory values, and outcomes of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers, finding affected mutation carriers with CTLA‐4 insufficiency can present in any medical specialty.
Journal ArticleDOI
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes.
Ebun Aganna,L. J. Hammond,Philip N. Hawkins,Anna Aldea,Shane McKee,Hans Kristian Ploos van Amstel,Claudia Mischung,Koichi Kusuhara,Frank T. Saulsbury,Helen J. Lachmann,Alison Bybee,Elizabeth M. McDermott,Micaela La Regina,Juan I. Aróstegui,Josep M. Campistol,Sharron Worthington,Kevin P. High,Michael G. Molloy,Nicholas Baker,Jeff L. Bidwell,José L. Castañer,Margo Whiteford,P. L. Janssens-Korpola,Raffaele Manna,Richard J. Powell,Patricia Woo,Pilar Solis,Kirsten Minden,Joost Frenkel,Jordi Yagüe,R. Mirakian,Graham A. Hitman,Michael F. McDermott +32 more
TL;DR: The presence of TNFRSF1A shedding defects and low sTNFRSf1A levels in 3 families without a TNFRN1A mutation indicates that the genetic basis among patients with "TRAPS-like" features is heterogeneous.
Journal ArticleDOI
Prospective study of anti‐tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti‐tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients
TL;DR: In this paper, the effects prospectively of tumour necrosis factor (TNF) receptor superfamily fusion proteins TNFRSF1B (etanercept) and p55TNFr-Ig in patients with TNF receptor associated periodic syndrome (TRAPS) were assessed.