Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease

by William Rae, Yifang Gao, Efrem Eren, Rainer Döffinger, Ben Marshall, Anthony P. Williams
Published 2016-01-01

Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

by Malte Roerden, Rainer Döffinger, Gabriela Barcenas-Morales, Stephan Forchhammer, Stefanie Döbele, Christoph P. Berg
Published 2020-11-01

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications

by Anoop Mistry, Thomas Scambler, David Parry, Mark Wood, Gabriela Barcenas-Morales, Clive Carter, Rainer Doffinger, Sinisa Savic, Sinisa Savic
Published 2017-11-01

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

by Shelly Pathak, Dorota Rowczenio, Samuel Lara-Reyna, Mark Kacar, Roger Owen, Gina Doody, Karoline Krause, Helen Lachmann, Rainer Doffinger, Darren Newton, Sinisa Savic
Published 2020-12-01

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies.

by Yifang Gao, William Rae, Keseva Ananth Ramakrishnan, Gabriela Barcenas-Morales, Rainer Döffinger, Efrem Eren, Saul N Faust, Christian H Ottensmeier, Anthony P Williams
Published 2016-01-01

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses

by Rhys D. R. Evans, Marilina Antonelou, Sanchutha Sathiananthamoorthy, Marilena Rega, Scott Henderson, Lourdes Ceron-Gutierrez, Gabriela Barcenas-Morales, Christoph A. Müller, Rainer Doffinger, Stephen B. Walsh, Alan D. Salama
Published 2020-08-01

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

by Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev
Published 2016-12-01

Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa

by João Farela Neves, João Farela Neves, Rainer Doffinger, Gabriela Barcena-Morales, Catarina Martins, Olivier Papapietro, Vincent Plagnol, James Curtis, Marta Martins, Dinakantha Kumararatne, Ana Isabel Cordeiro, Conceição Neves, Luis Miguel Borrego, Luis Miguel Borrego, Matilda Katan, Sergey Nejentsev, Sergey Nejentsev
Published 2018-12-01

A Novel Insight into the Immunologic Basis of Chronic Granulomatous Invasive Fungal Rhinosinusitis

by William Rae M.R.C.P., Rainer Doffinger F.R.C.Path., Fenella Shelton M.R.C.S., Eleanor Sproson F.R.C.S.(O.R.L.-H.N.S.), Hasnaa Ismail-Koch F.R.C.S.(O.R.L.-H.N.S.), Valerie J. Lund C.B.E., Philip G. Harries F.R.C.S.(O.R.L.-H.N.S.), Efrem Eren F.R.C.Path., Rami J. Salib F.R.C.S.(O.R.L.-H.N.S.)
Published 2016-06-01

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

by Matthew S. Buckland, James B. Galloway, Caoimhe Nic Fhogartaigh, Luke Meredith, Nicholas M. Provine, Stuart Bloor, Ane Ogbe, Wioleta M. Zelek, Anna Smielewska, Anna Yakovleva, Tiffeney Mann, Laura Bergamaschi, Lorinda Turner, Frederica Mescia, Erik J. M. Toonen, Carl-Philipp Hackstein, Hossain Delowar Akther, Vinicius Adriano Vieira, Lourdes Ceron-Gutierrez, Jimstan Periselneris, Sorena Kiani-Alikhan, Sofia Grigoriadou, Devan Vaghela, Sara E. Lear, M. Estée Török, William L. Hamilton, Joanne Stockton, Josh Quick, Peter Nelson, Michael Hunter, Tanya I. Coulter, Lisa Devlin, CITIID-NIHR COVID-19 BioResource Collaboration, MRC-Toxicology Unit COVID-19 Consortium, John R. Bradley, Kenneth G. C. Smith, Willem H. Ouwehand, Lise Estcourt, Heli Harvala, David J. Roberts, Ian B. Wilkinson, Nick Screaton, Nicholas Loman, Rainer Doffinger, Paul A. Lyons, B. Paul Morgan, Ian G. Goodfellow, Paul Klenerman, Paul J. Lehner, Nicholas J. Matheson, James E. D. Thaventhiran
Published 2020-12-01